P41250
PR
Gene name |
GARS1 |
Protein name |
Glycine--tRNA ligase |
Names |
Diadenosine tetraphosphate synthetase, Ap4A synthetase, Glycyl-tRNA synthetase, GlyRS, Glycyl-tRNA synthetase 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2617 |
EC number |
6.1.1.14: Ligases forming aminoacyl-tRNA and related compounds |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
15 structures for P41250
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2PME | X-ray | 290 A | A | 55-739 | PDB |
| 2PMF | X-ray | 285 A | A | 55-739 | PDB |
| 2Q5H | X-ray | 300 A | A | 55-739 | PDB |
| 2Q5I | X-ray | 280 A | A | 55-739 | PDB |
| 2ZT5 | X-ray | 250 A | A | 55-739 | PDB |
| 2ZT6 | X-ray | 308 A | A | 55-739 | PDB |
| 2ZT7 | X-ray | 270 A | A | 55-739 | PDB |
| 2ZT8 | X-ray | 335 A | A | 55-739 | PDB |
| 2ZXF | X-ray | 340 A | A | 55-739 | PDB |
| 4KQE | X-ray | 274 A | A | 55-739 | PDB |
| 4KR2 | X-ray | 329 A | A | 114-739 | PDB |
| 4KR3 | X-ray | 324 A | A | 114-739 | PDB |
| 4QEI | X-ray | 288 A | A | 118-739 | PDB |
| 5E6M | X-ray | 293 A | A/B | 55-739 | PDB |
| AF-P41250-F1 | Predicted | AlphaFoldDB |
637 variants for P41250
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1345458433 RCV001204762 |
1 | M>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1184401493 CA367138381 RCV001067276 |
3 | S>Y | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001095191 RCV000205776 RCV000387797 RCV000676703 RCV001172992 RCV000349184 RCV000244545 rs62636572 CA349889 |
4 | P>L | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease Distal spinal muscular atrophy Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000814077 RCV001174145 rs201132307 CA4205561 |
7 | V>L | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA367138425 rs1584017035 RCV001002799 |
12 | A>T | Charcot-Marie-Tooth disease type 2D [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA658657667 RCV000554132 rs1554336495 |
13 | R>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070294 RCV000857173 RCV002462194 rs758037738 CA4205573 |
15 | A>V | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368574634 CA4205579 RCV001236766 |
18 | L>M | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001592832 RCV000653877 rs150213018 |
19 | L>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150213018 RCV000555607 |
20 | L>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001726185 RCV001700389 RCV000477453 rs150213018 |
20 | L>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA279628 RCV000201927 rs863223328 |
32 | L>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002236002 CA367138546 RCV000992025 rs770934994 |
35 | S>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001756202 CA4205590 RCV000695402 rs759499740 |
38 | A>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA156096404 RCV001222358 rs988893052 |
41 | C>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000664247 rs1554336520 |
42 | P>missing | Motor neuron disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000396526 RCV000249303 RCV000340289 CA4205594 RCV001172984 rs1049402 RCV001701897 RCV000986124 RCV000305283 RCV000676705 VAR_054865 |
42 | P>A | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease Distal spinal muscular atrophy Neuronopathy, distal hereditary motor, type 5A Spinal muscular atrophy, infantile, James type Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs570608946 RCV001340364 CA4205596 |
43 | P>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA367138592 rs1584017371 RCV000857174 |
44 | I>L | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001207268 rs1791215308 |
44 | I>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001347311 RCV000523629 rs900324585 CA156096434 |
55 | M>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1554336540 RCV000520564 CA367138712 RCV002231638 |
62 | E>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1562769487 RCV000701821 |
64 | L>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000472803 RCV002461197 rs776478280 CA4205606 |
66 | P>S | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4205625 RCV000227814 rs780858299 RCV003105832 |
76 | D>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000168116 RCV001288968 rs369466037 CA334289 RCV002460947 |
79 | R>Q | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000496467 rs1135401747 |
83 | E>missing | GARS-associated growth retardation and developmental delay [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4205629 RCV001509302 RCV001164407 RCV001164409 rs200294578 RCV002461246 RCV000486004 RCV001164408 RCV000694201 |
85 | K>E | Charcot-Marie-Tooth disease type 2D Distal spinal muscular atrophy Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000460329 CA4205632 rs201728920 RCV002461196 RCV001552121 RCV000764711 |
88 | Q>E | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000653917 rs1389930859 CA367138971 |
94 | A>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA4205642 RCV000823490 RCV002535988 RCV001174148 rs746056671 |
101 | R>C | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002461029 rs200887429 RCV000526782 RCV000276269 RCV000235455 RCV001095168 COSM185044 RCV000333675 CA4205644 |
101 | R>H | Charcot-Marie-Tooth disease type 2D large_intestine Neuronopathy, distal hereditary motor, type 5A Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001808665 rs369224847 RCV000236202 CA4205646 RCV002229802 |
102 | K>R | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4205647 rs768571328 RCV001201941 |
103 | R>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001305894 CA156099432 rs1036198120 RCV003166737 |
109 | E>K | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000789053 VAR_073187 RCV001542252 rs370531212 CA156099438 RCV000790252 RCV002535799 |
111 | A>V | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2 CMT2D; shows a reduction in aminoacylation activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
rs1554336991 RCV000541670 CA367139111 |
115 | K>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001322985 rs1791340048 |
118 | I>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213122 rs200025018 CA4205685 |
118 | I>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001542253 rs137852645 RCV000009784 VAR_018718 RCV000790253 CA254708 RCV001260976 |
125 | E>G | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease Neuronopathy, distal hereditary motor, type 5A CMT2D; phenotype overlapping with HMN5A; complements the defect of the wild-type gene in yeast; contrary to the wild-type protein, strongly binds to NRP1 and competes with VEGFA for NRP1-binding; displays slightly elevated aminoacylation activity over wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001260977 CA204605 rs797044855 RCV000190657 |
125 | E>K | Spinal muscular atrophy, infantile, James type Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA367139180 RCV000694455 rs797044855 |
125 | E>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001058973 CA4205686 rs766540026 |
126 | D>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs898879117 RCV002473149 CA156099497 RCV000814314 |
134 | Y>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs888805042 CA367139282 RCV000704452 |
140 | I>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000810402 CA367139301 rs1584022929 |
143 | G>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349715 rs1791365947 |
149 | D>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA156100089 RCV000706647 rs751505742 |
150 | F>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA367139373 RCV000789144 rs1554337168 |
152 | P>L | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002526742 RCV000538443 CA4205715 rs367915362 RCV000998783 |
157 | L>F | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4205716 RCV000806471 rs372198757 |
160 | N>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1791369066 RCV001066797 |
178 | I>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001041062 rs1425456318 |
181 | T>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA367139589 rs1584024072 RCV000790254 |
183 | L>F | Distal spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000857175 rs137852644 VAR_018719 RCV001310958 RCV000009783 CA254706 |
183 | L>P | Charcot-Marie-Tooth disease Neuronopathy, distal hereditary motor, type 5A HMN5A; does not complement the defect of the wild-type gene in yeast; contrary to the wild-type protein, strongly interacts with NRP1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA4205736 rs376772628 RCV001159466 RCV000819577 RCV001159467 RCV001160833 RCV000513263 |
188 | V>I | Charcot-Marie-Tooth disease type 2D Neuronopathy, distal hereditary motor, type 5A Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1791411808 RCV001236910 |
193 | G>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_073188 RCV001038534 CA367139707 rs1554337369 RCV000789775 |
200 | D>N | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 CMT2D and HMN5A; shows a large reduction in aminoacylation activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_074016 | 200 | D>Y | CMT2D [UniProt] | Yes | UniProt |
|
rs1584026136 RCV001160835 CA367139753 RCV001160836 RCV001160834 RCV000804496 |
206 | V>I | Charcot-Marie-Tooth disease type 2D Distal spinal muscular atrophy Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1791412752 RCV002238430 |
210 | E>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000789771 rs1301948344 RCV001379906 CA367139789 |
211 | C>R | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA367139816 rs1584026191 RCV000788053 |
215 | D>H | Neuronopathy, distal hereditary motor, type 5A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768987322 CA4205764 RCV001253591 RCV001260979 RCV000857176 |
216 | H>R | Charcot-Marie-Tooth disease type 2D Distal spinal muscular atrophy Neuronopathy, distal hereditary motor, type 5A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000802232 rs750901652 CA4205777 RCV001249738 RCV001535443 |
223 | Q>R | GARS1-related neuropathies Charcot-Marie-Tooth disease type 2 GARS-Associated Axonal Neuropathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4205778 RCV001221212 rs756641901 |
224 | K>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1791422443 RCV001242613 |
228 | D>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1791422813 RCV001222119 |
232 | S>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001162461 RCV001162460 rs373326652 COSM452957 RCV001160837 CA4205789 RCV000531785 |
234 | E>K | Variant assessed as Somatic; 4.655e-05 impact. Charcot-Marie-Tooth disease type 2D Distal spinal muscular atrophy Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001339226 CA4205790 rs759012168 |
235 | K>N | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1791423440 RCV001320277 |
240 | E>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002462945 rs1791423440 RCV001342009 |
240 | E>V | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001395684 rs775140242 CA4205792 |
241 | S>N | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs775140242 RCV002462830 RCV001212977 CA156101202 |
241 | S>T | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000704040 CA4205796 RCV001759408 rs756629704 |
245 | Q>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200437855 RCV001217855 CA156048967 |
246 | L>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs760051768 CA4205818 RCV002240646 RCV001092562 |
253 | E>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765478968 RCV001211763 CA367124155 |
255 | A>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765478968 RCV001174144 RCV000544393 RCV000356639 RCV001095230 RCV000444686 CA4205819 RCV000393447 |
255 | A>V | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease Neuronopathy, distal hereditary motor, type 5A Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000365389 CA4205821 RCV000326925 RCV000269576 RCV001810861 RCV002229908 rs201399681 |
256 | D>H | Charcot-Marie-Tooth disease type 2D Distal spinal muscular atrophy Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs780902152 RCV002527934 CA4205825 RCV000552423 |
261 | Y>C | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001080429 rs77518956 RCV003165659 RCV000585481 CA4205827 |
263 | V>I | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1791556326 RCV001344952 |
264 | K>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA367124351 RCV000734019 RCV000533118 RCV000789776 rs1554337974 VAR_073189 |
265 | S>F | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 CMT2D and HMN5A; shows a large reduction in aminoacylation activity; demonstrates a change in the subcellular location pattern; does not associate with granules [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_085141 rs1554337974 RCV001265531 |
265 | S>Y | Charcot-Marie-Tooth disease type 2D CMT2D; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs2230310 RCV000676707 RCV000273181 VAR_054866 RCV000321274 CA203472 RCV002460945 RCV001174150 RCV001095276 RCV000167950 RCV000179842 |
268 | T>I | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease Distal spinal muscular atrophy Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 Inborn genetic diseases found in a patient with mild left ventricular posterior wall hypertrophy, exercise intolerance and lactic acidosis; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000789774 rs1554337979 CA367124470 |
272 | L>Q | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA367124482 rs1554337983 RCV000653833 |
273 | S>F | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4205835 rs545669679 RCV001337244 RCV002462249 RCV000992026 |
281 | M>I | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1791558334 RCV001338051 |
281 | M>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786204099 RCV002460946 RCV000168016 CA334151 |
285 | F>L | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000545734 rs1343637666 CA367124681 |
289 | G>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1064795123 VAR_074017 CA367124717 RCV000558281 |
292 | M>R | Charcot-Marie-Tooth disease type 2 CMT2D [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000009782 RCV000789142 RCV000327196 rs137852643 RCV000692132 CA254704 VAR_018720 |
294 | G>R | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 CMT2D; shows a large reduction in aminoacylation activity; does not impair transcription or translation or protein stability; contrary to the wild-type protein, strongly interacts with NRP1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA254714 rs137852648 VAR_073190 RCV001542255 RCV000009789 |
298 | P>L | Charcot-Marie-Tooth disease type 2D CMT2D; shows a large reduction in aminoacylation activity; demonstrates a change in subcellular location pattern; does not associate with granules [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_079827 CA367124967 rs1135401748 RCV002461250 RCV000496771 |
310 | R>Q | GARS-associated growth retardation and developmental delay Inborn genetic diseases probable disease-associated variant found in a patient with growth retardation, microcephaly, thinning of the corpus callosum, decreased white matter and brain stem involvement, as well as large calvaria, cerebellar vermis atrophy, dysmorphic features, prominent epicanthal folds, hypotelorism, high-arched palate, delayed motor milestones, apnea and sparse thin scalp hair; reduces to less than 1% aminoacylation activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000803887 rs774283805 CA4205861 RCV000481350 |
327 | G>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA367125157 rs1584034430 RCV000819141 RCV001823170 |
327 | G>R | Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA367125503 rs863224873 RCV000789143 |
333 | E>G | Hereditary motor neuron disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000195583 rs863224873 CA278926 |
333 | E>V | Charcot-Marie-Tooth disease type 2D [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_073191 RCV000789773 RCV001542256 RCV000529259 rs1554338260 RCV000790255 CA367125514 RCV001770486 RCV000992024 |
334 | I>F | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease Neuronopathy, distal hereditary motor, type 5A Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2 CMT2D; shows a large reduction in aminoacylation activity; demonstrates a change in subcellular location pattern; does not associate with granules; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1303447354 RCV002240825 RCV002249786 RCV001198686 |
334 | I>M | Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000653928 VAR_085142 RCV001260980 rs1554338262 CA367125516 RCV001334991 |
334 | I>N | Charcot-Marie-Tooth disease type 2D Spinal muscular atrophy, infantile, James type Charcot-Marie-Tooth disease type 2 SMAJI; loss of function; based on yeast complementation assay [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1554338262 RCV001034922 |
334 | I>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554338262 RCV001231694 |
334 | I>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000517313 CA367125541 rs1554338264 RCV002231201 |
336 | P>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000810292 COSM1089082 rs767696937 CA4205863 |
337 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium Charcot-Marie-Tooth disease type 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA367125926 rs1554338641 RCV000653955 |
345 | E>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886062273 CA10629085 RCV000397519 RCV000315411 RCV000362284 |
353 | H>Q | Charcot-Marie-Tooth disease type 2D Distal spinal muscular atrophy Neuronopathy, distal hereditary motor, type 5A [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA367126084 RCV000546580 rs267601479 |
363 | P>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001232215 rs1357360844 CA367126101 |
364 | K>N | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000558968 RCV001171985 RCV000302958 RCV001027470 RCV001095236 CA4205894 RCV000267692 RCV002461112 rs192443850 |
367 | N>S | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease Neuronopathy, distal hereditary motor, type 5A Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4205895 RCV000802794 RCV002462160 rs769026859 |
370 | D>H | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs772145843 CA4205898 RCV000653893 |
380 | A>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001162555 rs1782883200 RCV001162553 RCV001162554 |
381 | Q>H | Charcot-Marie-Tooth disease type 2D Neuronopathy, distal hereditary motor, type 5A Distal spinal muscular atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000824406 CA367126412 rs1584038245 |
385 | Q>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs759277467 RCV001240298 RCV002462864 CA4205903 |
388 | R>G | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001173309 RCV000261919 RCV000514172 RCV001095281 VAR_054867 RCV000372862 RCV000429266 RCV000473112 CA4205905 rs17159287 |
388 | R>Q | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease Neuronopathy, distal hereditary motor, type 5A Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4205904 rs759277467 RCV000806767 RCV000711737 COSM219335 |
388 | R>W | Charcot-Marie-Tooth disease type 2 breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4205908 RCV002461270 RCV000653904 rs370057212 RCV001591166 RCV000789778 |
391 | R>C | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002462264 rs199832199 CA4205910 RCV001034988 |
391 | R>H | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000704928 CA367126548 rs1278294610 |
394 | D>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060502836 RCV000764712 RCV002248686 RCV000472881 CA16612089 |
396 | V>I | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1782903666 RCV001210879 |
400 | V>M | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1000458033 RCV002544771 CA156053019 RCV001756163 RCV000687214 |
403 | N>S | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000700770 CA4205936 RCV002462048 rs370650205 |
407 | G>S | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001301497 rs1782904125 RCV001726481 |
409 | F>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4205937 rs770924455 RCV000653946 VAR_079828 RCV001766423 |
412 | R>C | Charcot-Marie-Tooth disease type 2 found in a patient with mild left ventricular posterior wall hypertrophy, exercise intolerance and lactic acidosis; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001159689 COSM3663150 RCV001241138 RCV001164607 CA4205939 RCV001159690 rs746139865 |
418 | T>M | liver Charcot-Marie-Tooth disease type 2D Distal spinal muscular atrophy Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000535318 rs951085877 CA367127168 |
428 | R>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000705487 rs1203971547 CA367127179 |
428 | R>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001061357 CA367127208 rs1430190191 |
430 | R>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs375133923 RCV001237304 |
431 | Q>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001303004 rs1782906838 |
439 | H>Y | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000653925 rs1554338834 CA367127524 |
446 | D>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA367128038 rs1554339284 RCV000653869 |
463 | D>Y | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA367128134 rs1584043561 RCV000857177 |
468 | D>A | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002461198 RCV000789777 RCV000790256 RCV000459084 RCV000664213 CA16612091 rs1060502838 VAR_073192 |
472 | H>R | Charcot-Marie-Tooth disease Neuronopathy, distal hereditary motor, type 5A Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2 Inborn genetic diseases HMN5A; shows a large reduction in aminoacylation activity; does not complement the defect of the wild-type gene in yeast [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA367128210 rs1345590827 RCV000560477 |
474 | R>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001174146 rs1783005436 |
476 | T>S | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001174147 CA367128244 rs1287718221 |
477 | K>E | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001351809 CA4205976 rs528223570 |
484 | K>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002462881 RCV001248093 CA367128368 rs1159290036 |
485 | P>L | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4205989 RCV002512088 RCV000389357 rs538571144 RCV000289117 RCV001236217 RCV000351179 |
493 | N>S | Charcot-Marie-Tooth disease type 2D Distal spinal muscular atrophy Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1325522512 RCV000536521 CA367128590 |
496 | Q>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000998784 CA4205992 RCV002236007 rs762264480 |
504 | I>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1584044584 RCV000857178 CA367128817 |
510 | K>Q | Distal spinal muscular atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4205994 RCV000653898 rs750971084 RCV002534205 |
512 | A>T | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000700633 RCV002462045 CA4205995 rs367589841 |
515 | V>M | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4205997 rs753947676 RCV000414190 RCV000863606 RCV001439803 |
518 | Y>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA334697 COSM3832629 RCV000168384 rs779225125 |
523 | D>V | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001223852 rs752812365 CA4206000 |
525 | C>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001312803 CA4206001 rs758225567 |
525 | C>Y | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001240387 rs1783032476 |
531 | E>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327239 CA367129181 rs1415135637 |
538 | G>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs745739050 RCV000998785 RCV003106089 CA4206022 |
541 | T>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060502837 CA16612240 RCV000466974 |
542 | I>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002462905 rs1783125497 RCV001294284 |
553 | K>E | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137852647 CA254712 RCV000009788 RCV000790257 RCV000009787 VAR_073193 RCV001542257 RCV001161100 |
554 | D>N | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease Distal spinal muscular atrophy Neuronopathy, distal hereditary motor, type 5A CMT2D; demonstrates no change in subcellular location pattern [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002462265 RCV001035448 RCV001162652 CA4206026 rs200726600 RCV001161101 RCV001161102 |
565 | L>Q | Charcot-Marie-Tooth disease type 2D Neuronopathy, distal hereditary motor, type 5A Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000468725 rs1060502839 CA16612353 |
569 | E>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000699409 rs764238525 CA156058559 RCV001811449 |
572 | P>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1242186885 RCV002526741 CA367129538 RCV000525304 |
573 | N>K | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs181912750 RCV000466243 CA4206059 |
575 | I>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000702309 rs754547488 CA4206060 |
577 | P>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000009786 RCV002228024 RCV000790258 CA254710 VAR_018721 RCV001542258 rs137852646 |
580 | G>R | Charcot-Marie-Tooth disease type 2D Neuronopathy, distal hereditary motor, type 5A Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2 HMN5A; higher dimerization stability; loss of activity; shows a large reduction in aminoacylation activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP |
|
rs864622616 CA348286 RCV001249739 RCV000236935 RCV000204008 |
584 | I>N | Charcot-Marie-Tooth disease type 2 GARS-Associated Axonal Neuropathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA4206067 RCV001338858 rs780441296 |
585 | M>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1089084 rs374378925 CA4206066 RCV002461033 RCV002518450 RCV000235889 RCV000857180 |
585 | M>T | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease endometrium Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs750292154 CA4206068 RCV001310961 RCV000653950 |
587 | T>M | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs372368483 RCV000235398 CA4206070 |
593 | F>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4206072 RCV000653899 RCV002461994 rs373694973 |
595 | V>A | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000235806 rs879254345 |
597 | E>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766280100 VAR_079829 CA156058640 |
598 | G>A | HMN5A; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV002512119 CA4206096 RCV000653945 rs773316961 |
606 | S>N | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554340666 RCV000653888 CA367129929 |
610 | V>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000521333 rs201432170 RCV001430883 CA4206098 RCV002461273 |
610 | V>I | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001039637 rs765235116 CA156060394 |
617 | S>Y | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000382756 RCV001095174 rs369894731 CA336802 RCV000196909 RCV002227458 RCV000290713 RCV002460982 RCV001509304 |
618 | V>I | Charcot-Marie-Tooth disease type 2D Neuronopathy, distal hereditary motor, type 5A Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201358272 RCV000860828 RCV002460966 RCV000191089 CA276142 VAR_073194 RCV000790259 COSM1089085 |
635 | S>L | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease endometrium Charcot-Marie-Tooth disease type 2 Inborn genetic diseases has no effect on subcellular localization; results in decreased affinity for glycine [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs191270471 RCV000818890 CA4206124 RCV002462184 |
641 | H>Y | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1554340789 RCV000653843 CA367130345 |
643 | V>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_073195 RCV000789772 RCV001260978 rs747080824 CA367130471 |
652 | G>A | Autosomal dominant distal hereditary motor neuropathy Spinal muscular atrophy, infantile, James type CMT2D; shows a large reduction in aminoacylation activity; demonstrates a change in subcellular location pattern; does not associate with granules [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001260981 rs1783251037 VAR_085143 |
652 | G>R | Spinal muscular atrophy, infantile, James type SMAJI [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs781585447 CA4206132 RCV002461992 RCV000653859 |
657 | R>C | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA367130658 RCV001207252 RCV001288967 rs1064797334 |
664 | I>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs544634101 RCV001477654 RCV002462206 CA4206134 |
666 | V>M | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs376585160 RCV000794501 CA4206135 |
670 | V>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554340824 CA367130781 RCV000550518 |
672 | I>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA367130774 RCV000686991 rs1562784262 |
672 | I>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002461039 RCV000236620 CA10584677 rs879254346 RCV000660607 |
681 | P>L | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA367130925 rs1437642803 RCV000857183 RCV001360734 |
682 | H>N | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001214486 CA4206145 rs376308368 |
689 | R>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA4206144 rs376308368 RCV001051156 |
689 | R>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1002052289 RCV000762449 RCV001205996 CA156061565 |
703 | P>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1554340999 CA367131897 RCV000653942 |
707 | Q>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000711742 CA4206173 rs530891983 RCV002233728 RCV001334992 RCV002534498 |
720 | E>A | Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001174149 rs1785775131 |
736 | T>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000321466 rs181251337 RCV000378574 CA4206184 RCV002461116 RCV000711744 RCV000263932 RCV001444766 |
738 | E>K | Charcot-Marie-Tooth disease type 2D Neuronopathy, distal hereditary motor, type 5A Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001206894 rs1783284502 |
740 | E>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781520666 RCV000236169 |
1 | M>I | No |
ClinVar dbSNP |
|
|
rs62636572 CA367138388 |
4 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367138386 rs1303425335 |
4 | P>S | No |
ClinGen gnomAD |
|
|
rs1257151609 CA367138393 |
5 | R>L | No |
ClinGen TOPMed |
|
|
rs1167760411 CA367138400 |
6 | P>L | No |
ClinGen gnomAD |
|
|
CA367138399 rs1167760411 |
6 | P>R | No |
ClinGen gnomAD |
|
|
CA367138396 rs1466890697 |
6 | P>S | No |
ClinGen gnomAD |
|
|
CA367138404 rs1411328478 |
7 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4205562 rs201132307 |
7 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4205563 rs774753271 |
8 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA367138413 rs773138162 |
9 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4205566 rs773138162 |
9 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955394532 CA156096250 |
10 | R>G | No |
ClinGen TOPMed |
|
|
rs1303334882 CA367138415 |
10 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM1450338 CA367138416 rs1303334882 |
10 | R>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1303334882 CA367138417 |
10 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760668265 CA4205567 |
11 | G>C | No |
ClinGen ExAC |
|
|
rs1467460367 CA367138432 |
13 | R>C | No |
ClinGen TOPMed |
|
|
rs766172101 CA4205568 |
13 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367138439 rs1249446844 |
14 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1317271188 CA367138436 |
14 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367138441 rs1249446844 |
14 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4205572 rs764698848 |
15 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4205571 rs764698848 |
15 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367138450 rs1197825836 |
17 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA367138453 rs1250979520 |
17 | L>R | No |
ClinGen Ensembl |
|
|
CA4205580 rs756664556 |
20 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367138473 rs1253693364 |
21 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367138470 rs1168842293 |
21 | P>S | No |
ClinGen gnomAD |
|
|
rs1422197708 CA367138479 |
22 | P>L | No |
ClinGen gnomAD |
|
|
rs1368177047 CA367138482 |
23 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367138481 rs1368177047 |
23 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs780383773 CA4205581 |
23 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs779124153 CA4205584 |
26 | A>V | No |
ClinGen ExAC |
|
|
CA4205585 rs748449256 |
27 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367138515 rs1298630963 |
29 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA367138517 rs1298630963 |
29 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367138520 rs1219464034 |
30 | L>F | No |
ClinGen gnomAD |
|
|
CA156096346 rs1054205068 |
32 | L>V | No |
ClinGen TOPMed |
|
|
CA367138538 rs1562769338 |
33 | R>H | No |
ClinGen Ensembl |
|
|
rs1189675611 CA367138540 |
34 | R>Q | No |
ClinGen gnomAD |
|
|
CA156096365 rs928410877 |
34 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs760342271 CA367138544 |
35 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770934994 CA4205588 |
35 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4205587 rs760342271 |
35 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367138560 rs776477848 |
37 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367138576 rs1390493630 |
40 | S>F | No |
ClinGen gnomAD |
|
|
rs762605231 CA4205593 |
41 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA367138585 rs1316245045 |
42 | P>L | No |
ClinGen TOPMed |
|
|
rs1049402 CA4205595 |
42 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367138584 rs1049402 |
42 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs570608946 CA156096412 |
43 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780443594 CA4205597 |
44 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1460220275 CA367138603 |
45 | S>C | No |
ClinGen TOPMed |
|
|
CA367138600 rs1266765066 |
45 | S>P | No |
ClinGen gnomAD |
|
|
rs1242974841 CA367138619 |
48 | A>T | No |
ClinGen gnomAD |
|
|
rs1482043506 CA367138622 |
48 | A>V | No |
ClinGen gnomAD |
|
|
rs1413804476 CA367138629 |
50 | A>T | No |
ClinGen gnomAD |
|
|
rs755504496 CA4205599 |
52 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1418015301 CA367138642 |
52 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1414091099 CA367138654 |
54 | S>G | No |
ClinGen gnomAD |
|
|
rs1446003759 CA367138676 |
56 | D>E | No |
ClinGen gnomAD |
|
|
rs1403668479 CA367138669 |
56 | D>N | No |
ClinGen gnomAD |
|
|
CA367138679 rs1304818311 |
57 | G>C | No |
ClinGen gnomAD |
|
|
rs748183696 CA4205601 |
57 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4205603 rs778104410 |
58 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA367138689 rs1262867161 |
59 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs537988099 CA156096458 |
59 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA367138692 rs1310815361 |
60 | A>T | No |
ClinGen gnomAD |
|
|
rs1211728117 CA367138700 |
61 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 62 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367138717 rs1237685622 |
63 | V>A | No |
ClinGen gnomAD |
|
|
rs1237685622 CA367138719 |
63 | V>G | No |
ClinGen gnomAD |
|
|
CA367138728 rs1179352387 |
65 | A>E | No |
ClinGen gnomAD |
|
|
rs1179352387 CA367138729 |
65 | A>G | No |
ClinGen gnomAD |
|
|
CA367138739 rs1175620874 |
67 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA367138738 rs1175620874 |
67 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1008199275 CA156096472 |
70 | A>P | No |
ClinGen TOPMed |
|
|
rs1415948102 CA367138757 |
70 | A>V | No |
ClinGen gnomAD |
|
|
CA4205607 rs759393844 |
72 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4205609 rs775001026 |
73 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA367138783 rs1410909987 |
74 | Q>H | No |
ClinGen gnomAD |
|
|
rs1030792388 CA156098594 |
77 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367138872 RCV000579209 rs1479788149 |
79 | R>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA4205627 rs775444919 |
80 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA367138891 rs1420587962 |
82 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749199700 CA4205628 |
84 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4205630 rs377122472 |
85 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163975688 CA367138922 |
86 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4205631 rs761378110 |
87 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1411831778 CA367138924 |
87 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1222987042 CA367138932 |
88 | Q>R | No |
ClinGen TOPMed |
|
|
rs759941591 CA4205634 |
90 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4205637 rs758964807 |
91 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4205636 rs374616031 RCV000605595 |
91 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs751597051 CA4205639 |
95 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs757439624 CA4205640 |
96 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA573457911 rs1322568807 |
99 | K>* | No |
ClinGen gnomAD |
|
|
rs1444382015 CA367139009 |
100 | A>D | No |
ClinGen gnomAD |
|
|
rs1303853932 CA367139006 |
100 | A>T | No |
ClinGen TOPMed |
|
|
RCV000518315 CA367139014 rs200887429 |
101 | R>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4205643 rs746056671 |
101 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171262052 CA367139029 |
104 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 105 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773748010 CA4205648 |
107 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA367139052 rs1414734097 |
108 | K>Q | No |
ClinGen gnomAD |
|
|
rs1412126207 CA367139057 |
108 | K>R | No |
ClinGen TOPMed |
|
|
rs1367413350 CA367139083 |
111 | A>T | No |
ClinGen gnomAD |
|
|
rs1584022750 CA367139094 |
112 | L>F | No |
ClinGen Ensembl |
|
|
rs767701991 CA4205683 |
114 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs750435761 CA4205684 |
115 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1486207017 CA367139118 |
116 | D>A | No |
ClinGen TOPMed |
|
|
CA367139153 rs1363263798 |
121 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1316239404 CA367139159 |
122 | A>E | No |
ClinGen TOPMed |
|
|
CA367139156 rs1296300317 |
122 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM601033 rs1321224389 CA367139176 |
124 | M>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 124 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4205687 rs753665863 |
127 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA4205688 rs754844192 |
128 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1208484453 CA367139218 |
131 | R>K | No |
ClinGen gnomAD |
|
|
CA367139219 rs1208484453 |
131 | R>T | No |
ClinGen gnomAD |
|
|
CA4205689 rs778553007 |
135 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs888805042 CA156099507 |
140 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752426125 CA4205710 |
143 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1309618721 CA367139332 |
146 | G>S | No |
ClinGen TOPMed |
|
|
CA4205711 rs758414117 |
147 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764096597 CA4205712 |
148 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA367139376 rs1224682325 |
153 | V>I | No |
ClinGen gnomAD |
|
|
CA367139382 rs1310016151 |
154 | G>S | No |
ClinGen gnomAD |
|
|
rs1211802479 CA367139398 |
156 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 156 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367139432 rs1202467613 |
161 | I>V | No |
ClinGen gnomAD |
|
|
CA4205717 rs755718829 |
162 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs377056075 CA4205718 |
163 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367139466 rs1345359089 |
166 | R>G | No |
ClinGen TOPMed |
|
|
CA4205720 rs772606983 |
166 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4205723 rs771009601 |
172 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 172 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776505252 CA4205724 |
173 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA156100150 rs774732829 |
178 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4205727 rs372221055 |
179 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367139560 rs372221055 |
179 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367139578 rs1425456318 |
181 | T>S | No |
ClinGen TOPMed |
|
|
rs751558842 CA4205730 |
182 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs763935450 CA4205729 |
182 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4205731 rs757196240 |
184 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs779541328 CA4205735 |
186 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4205734 rs755839241 |
186 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 186 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486318385 CA367139621 |
189 | L>* | No |
ClinGen TOPMed |
|
|
CA156100199 rs201959920 |
189 | L>V | No |
ClinGen Ensembl |
|
|
rs760133861 CA4205752 |
191 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA367139672 rs1562772773 |
195 | V>L | No |
ClinGen Ensembl |
|
|
rs1247195645 CA367139710 |
200 | D>V | No |
ClinGen gnomAD |
|
|
rs778174386 CA4205756 |
202 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA367139724 rs778174386 |
202 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4205758 rs757806757 |
208 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1412253463 CA367139786 |
210 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1301948344 CA367139790 |
211 | C>G | No |
ClinGen TOPMed |
|
|
rs769780656 CA4205761 |
213 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780116880 RCV000419741 CA4205762 |
213 | R>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA367139813 rs1432382806 |
214 | A>V | No |
ClinGen gnomAD |
|
|
CA4205765 rs774338137 |
219 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1259631198 CA367139864 |
220 | A>D | No |
ClinGen TOPMed |
|
|
rs1279978899 CA367139870 |
221 | H>R | No |
ClinGen gnomAD |
|
|
rs372873420 CA4205781 |
226 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748330956 CA4205783 |
226 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs372873420 CA4205782 |
226 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1184354999 CA367139914 |
228 | D>N | No |
ClinGen gnomAD |
|
|
rs1364741286 CA367139926 |
229 | K>R | No |
ClinGen gnomAD |
|
|
CA367139935 rs1477468328 |
230 | K>R | No |
ClinGen gnomAD |
|
|
CA367139941 rs376117067 |
231 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367139939 rs1584026626 |
231 | C>R | No |
ClinGen Ensembl |
|
|
CA4205786 rs376117067 |
231 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367139942 rs376117067 |
231 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4205787 rs746983441 |
232 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 234 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764682456 CA4205791 |
239 | M>I | No |
ClinGen ExAC |
|
|
rs1164561168 CA367139993 |
239 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 240 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4205793 rs775140242 |
241 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367140025 rs1230860408 |
243 | L>F | No |
ClinGen gnomAD |
|
|
rs1375153386 CA367140022 |
243 | L>S | No |
ClinGen TOPMed |
|
|
CA367123995 rs1256094322 |
248 | N>K | No |
ClinGen TOPMed |
|
|
CA156048971 rs1034889657 |
250 | G>E | No |
ClinGen TOPMed |
|
|
CA156048983 rs369940947 |
257 | L>H | No |
ClinGen Ensembl |
|
|
rs778020206 CA4205822 |
258 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4205823 rs751687844 |
259 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4205826 rs745875431 |
262 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745875431 CA367124289 |
262 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367124333 rs1476752544 |
264 | K>I | No |
ClinGen TOPMed |
|
|
CA4205829 rs779588993 |
264 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1562775206 RCV000732577 |
267 | I>missing | No |
ClinVar dbSNP |
|
|
rs1018278927 CA156049014 |
267 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 267 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340331133 CA367124382 |
267 | I>V | No |
ClinGen gnomAD |
|
|
rs1584032237 CA367124412 |
269 | G>R | No |
ClinGen Ensembl |
|
|
rs1258582914 CA367124488 |
274 | P>S | No |
ClinGen gnomAD |
|
|
rs1486676467 CA367124498 |
275 | P>A | No |
ClinGen gnomAD |
|
|
rs1186534585 CA367124507 |
276 | V>L | No |
ClinGen gnomAD |
|
|
CA367124530 rs1324250903 |
278 | F>V | No |
ClinGen TOPMed |
|
|
CA367124552 rs1029686290 |
279 | N>K | No |
ClinGen gnomAD |
|
|
CA367124602 rs1584032284 |
283 | K>E | No |
ClinGen Ensembl |
|
|
rs752755311 CA4205836 |
286 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA367124702 rs1455548245 |
291 | N>S | No |
ClinGen gnomAD |
|
|
rs1289450971 CA367124719 |
292 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1064795123 CA16618453 RCV000483930 |
292 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs910369471 CA367124731 |
293 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs910369471 CA156049041 |
293 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 300 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4205854 rs771835056 |
302 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4205855 rs777181462 |
309 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4205856 rs759945541 |
310 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4205857 rs770240387 |
313 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367124990 rs770240387 |
313 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763306555 CA4205859 |
322 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA367125110 rs1168927898 |
323 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 323 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443380634 CA367125156 |
326 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1368256616 CA367125168 |
328 | N>D | No |
ClinGen gnomAD |
|
|
CA156050290 rs200405722 |
328 | N>S | No |
ClinGen TOPMed |
|
|
rs1442649879 CA367125191 |
330 | F>V | No |
ClinGen gnomAD |
|
|
rs867706473 CA156050295 |
332 | N>D | No |
ClinGen Ensembl |
|
|
CA16618454 rs863224873 RCV000484050 |
333 | E>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA367125549 rs1275023981 |
337 | R>Q | No |
ClinGen gnomAD |
|
|
rs1157877525 CA367125573 |
339 | G>E | No |
ClinGen TOPMed |
|
|
rs750606747 CA4205864 |
343 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 347 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4205887 rs368832379 |
348 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367126008 rs1344399581 |
356 | D>E | No |
ClinGen TOPMed |
|
|
rs1166179728 CA367126006 |
356 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1165136815 CA367126020 |
357 | P>L | No |
ClinGen TOPMed |
|
|
CA4205888 rs752640031 |
359 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4205889 rs374661605 |
360 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398604287 CA367126051 |
360 | K>T | No |
ClinGen gnomAD |
|
|
CA4205891 rs746728596 |
362 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1291330442 CA367126089 |
363 | P>R | No |
ClinGen gnomAD |
|
|
rs267601479 CA156052460 |
363 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4205892 rs267601479 |
363 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs77663409 CA156052474 |
365 | F>L | No |
ClinGen Ensembl |
|
|
CA4205893 rs780519311 |
366 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1350141957 CA367126139 |
368 | V>M | No |
ClinGen gnomAD |
|
|
CA367126165 rs1584038152 |
370 | D>G | No |
ClinGen Ensembl |
|
|
rs1286367188 CA367126174 |
371 | L>F | No |
ClinGen gnomAD |
|
|
rs1286367188 CA367126176 |
371 | L>V | No |
ClinGen gnomAD |
|
|
rs1256012615 CA367126229 COSM70866 |
375 | L>F | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4205897 rs371537155 |
378 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1159916252 CA367126386 CA367126387 |
384 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1408318404 CA367126401 |
385 | Q>E | No |
ClinGen gnomAD |
|
|
rs776528885 RCV001776139 CA4205902 RCV001198401 |
387 | A>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA367126482 rs1333786543 |
389 | K>* | No |
ClinGen gnomAD |
|
|
rs1436808636 CA367126508 |
390 | M>I | No |
ClinGen gnomAD |
|
|
rs1240975328 CA367126493 |
390 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199832199 CA4205911 |
391 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370057212 CA4205909 |
391 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367126553 rs1278294610 |
394 | D>V | No |
ClinGen gnomAD |
|
|
CA367126614 rs1250500353 |
398 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs904425647 CA367126904 |
403 | N>D | No |
ClinGen TOPMed |
|
|
rs904425647 CA156053018 |
403 | N>H | No |
ClinGen TOPMed |
|
|
CA4205935 rs778282747 |
405 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1241301935 CA367126947 |
409 | F>L | No |
ClinGen TOPMed |
|
|
CA367126953 rs1181501959 |
410 | I>T | No |
ClinGen TOPMed |
|
|
COSM281316 CA156053035 rs1013921090 |
412 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1013921090 CA367126965 |
412 | R>L | No |
ClinGen TOPMed |
|
|
rs868310631 CA156053041 |
414 | Y>* | No |
ClinGen Ensembl |
|
| TCGA novel | 414 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4205941 rs775469329 |
419 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA367127039 rs1230299356 |
420 | V>G | No |
ClinGen gnomAD |
|
|
CA4205942 rs749129356 |
420 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA156053072 rs571142002 |
423 | S>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs774169230 CA4205944 |
423 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571142002 CA156053068 |
423 | S>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA4205945 rs761745630 |
425 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1203971547 CA367127171 |
428 | R>H | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA156053084 rs951085877 |
428 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 429 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259098117 CA367127203 |
430 | R>W | No |
ClinGen gnomAD |
|
|
rs375133923 CA156053087 |
431 | Q>E | No |
ClinGen ESP TOPMed |
|
|
rs767003512 CA4205946 |
432 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 433 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4205947 rs772763919 |
435 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1290467585 CA367127378 |
438 | A>T | No |
ClinGen TOPMed |
|
|
rs1474101398 CA367127433 |
442 | C>R | No |
ClinGen gnomAD |
|
|
CA4205948 rs760367500 |
443 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1359618467 CA367127598 |
451 | T>I | No |
ClinGen TOPMed |
|
|
rs1246368348 CA367127634 |
453 | Y>C | No |
ClinGen gnomAD |
|
|
CA367127920 rs1281835291 |
454 | G>D | No |
ClinGen TOPMed |
|
|
COSM4155717 CA156054862 rs976496704 |
458 | I>M | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs201260278 CA4205969 |
458 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367127978 rs1315120109 |
459 | V>I | No |
ClinGen gnomAD |
|
|
CA156054865 rs924595179 |
460 | G>A | No |
ClinGen gnomAD |
|
|
CA367127994 rs924595179 |
460 | G>E | No |
ClinGen gnomAD |
|
|
CA367128063 rs1391219026 |
464 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4205971 rs756498678 |
466 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4205970 rs756498678 |
466 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368388267 CA4205972 |
467 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs988105162 CA156054887 |
473 | A>S | No |
ClinGen Ensembl |
|
|
CA367128262 rs1238026762 |
478 | V>L | No |
ClinGen gnomAD |
|
|
CA367128358 rs1248669109 |
484 | K>N | No |
ClinGen gnomAD |
|
|
rs756276908 CA367128362 |
485 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4205977 rs756276908 |
485 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 486 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1168737278 CA367128398 |
488 | E>K | No |
ClinGen gnomAD |
|
|
CA4205978 rs780217118 |
489 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1423059045 CA367128416 |
489 | P>R | No |
ClinGen Ensembl |
|
|
rs1306905236 CA367128488 |
490 | K>E | No |
ClinGen gnomAD |
|
|
CA367128520 rs1252857159 |
492 | V>I | No |
ClinGen gnomAD |
|
|
CA156055301 rs1021658835 |
494 | V>I | No |
ClinGen gnomAD |
|
|
rs769460182 CA4205990 |
495 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA367128619 rs1426423600 |
498 | E>K | No |
ClinGen gnomAD |
|
|
rs879128453 CA156055302 |
499 | P>H | No |
ClinGen Ensembl |
|
|
CA367128645 rs1428449193 |
499 | P>S | No |
ClinGen gnomAD |
|
|
rs1168730606 CA367128658 |
500 | S>C | No |
ClinGen gnomAD |
|
|
rs187297343 CA4205991 |
504 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1324763917 CA367128747 |
505 | G>S | No |
ClinGen gnomAD |
|
|
CA367128782 rs1403505663 |
507 | A>T | No |
ClinGen TOPMed |
|
|
CA367128827 rs1442448291 |
510 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4205993 rs767720657 |
510 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4205996 rs766625252 |
516 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367128896 rs1297700708 |
516 | M>R | No |
ClinGen gnomAD |
|
|
rs1197418381 CA367128913 |
517 | E>A | No |
ClinGen TOPMed |
|
|
rs753947676 CA4205998 |
518 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 522 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4205999 rs779225125 |
523 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 526 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367129026 rs1584044686 |
526 | Y>N | No |
ClinGen Ensembl |
|
| TCGA novel | 529 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4206003 rs747012834 |
530 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs562754508 CA4206004 |
534 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1164729890 CA367129142 |
535 | N>S | No |
ClinGen gnomAD |
|
|
rs564693398 CA4206021 |
539 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs953786034 CA156057151 |
542 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1448530643 CA367129339 |
546 | G>E | No |
ClinGen gnomAD |
|
|
rs541222096 CA156057165 |
548 | T>K | No |
ClinGen Ensembl |
|
|
rs755658988 CA4206023 |
548 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs541222096 RCV000236153 CA10584283 |
548 | T>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA156057173 COSM1622777 rs1023871853 |
555 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs768173012 CA4206025 |
559 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA367129447 rs1444487932 |
561 | F>L | No |
ClinGen gnomAD |
|
|
rs1584048857 CA367129469 |
564 | T>I | No |
ClinGen Ensembl |
|
|
rs1468287760 CA367129477 |
566 | Y>S | No |
ClinGen gnomAD |
|
|
CA367129498 rs1339165426 |
567 | V>A | No |
ClinGen gnomAD |
|
|
CA4206056 rs767359346 |
571 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs528292901 CA4206058 |
575 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778498886 CA4206061 |
578 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4206063 rs137852646 |
580 | G>S | No |
ClinGen ExAC |
|
|
rs1194067741 CA367129587 |
582 | G>S | No |
ClinGen gnomAD |
|
|
rs746184317 CA4206065 |
583 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367129606 rs1474132731 |
585 | M>V | No |
ClinGen gnomAD |
|
|
CA367129616 rs1221871834 |
586 | Y>C | No |
ClinGen gnomAD |
|
|
CA156058606 rs933471566 |
587 | T>A | No |
ClinGen Ensembl |
|
|
CA367129650 rs1230120568 |
591 | H>R | No |
ClinGen gnomAD |
|
|
rs1402428554 CA367129659 |
592 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1402428554 CA367129657 |
592 | T>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 596 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367129682 rs1554340334 |
596 | R>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 599 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367129706 rs1270150388 |
600 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4206073 rs773445942 |
603 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1162021593 CA367129859 |
604 | F>V | No |
ClinGen gnomAD |
|
|
CA367129885 rs1236621581 |
606 | S>G | No |
ClinGen gnomAD |
|
|
rs760881930 CA4206097 |
607 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1425001663 CA367129909 |
608 | P>S | No |
ClinGen gnomAD |
|
|
rs1460495483 CA367129949 |
612 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1297164565 CA367129983 |
615 | K>R | No |
ClinGen TOPMed |
|
|
rs765235116 CA4206100 |
617 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751239315 CA4206103 |
619 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA156060453 rs892958904 |
620 | P>L | No |
ClinGen gnomAD |
|
|
rs766703697 CA4206105 |
623 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 624 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367130144 rs1306671434 |
629 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 632 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA156060467 rs1012693687 |
633 | E>* | No |
ClinGen Ensembl |
|
|
CA367130206 rs1407140995 |
634 | L>S | No |
ClinGen TOPMed |
|
|
CA4206121 rs201358272 |
635 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367130291 rs1584055549 |
637 | A>V | No |
ClinGen Ensembl |
|
|
rs1562784182 CA367130311 |
640 | R>G | No |
ClinGen Ensembl |
|
|
rs1219456989 CA367130316 |
640 | R>T | No |
ClinGen gnomAD |
|
|
CA367130323 rs191270471 |
641 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA156060883 rs955626963 |
641 | H>R | No |
ClinGen TOPMed |
|
|
CA4206126 rs755352374 |
642 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA367130354 rs1162157552 |
644 | S>P | No |
ClinGen TOPMed |
|
|
rs753267038 CA4206128 |
645 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1191900293 CA367130396 |
647 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1162246784 CA367130424 |
649 | D>A | No |
ClinGen gnomAD |
|
|
CA4206130 rs775471710 |
649 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747080824 CA4206131 |
652 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA367130488 rs1406586832 |
654 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA367130509 rs1240181303 |
655 | G>R | No |
ClinGen TOPMed |
|
|
rs1192193942 CA367130524 |
656 | R>G | No |
ClinGen TOPMed |
|
|
CA156060917 rs768342741 |
657 | R>H | No |
ClinGen Ensembl |
|
|
CA367130618 rs1270968732 |
662 | D>E | No |
ClinGen TOPMed |
|
|
CA16621853 RCV000488410 rs1064797334 |
664 | I>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA367130683 rs544634101 |
666 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768607839 CA4206137 |
672 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367130811 rs1377267671 |
674 | F>S | No |
ClinGen gnomAD |
|
|
CA4206139 rs761412461 |
678 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA367130911 rs1288829195 |
680 | T>I | No |
ClinGen gnomAD |
|
|
rs948973675 CA156060956 |
683 | T>I | No |
ClinGen TOPMed |
|
|
rs776308038 CA156060959 |
685 | T>I | No |
ClinGen Ensembl |
|
|
rs1235327050 CA367130978 |
687 | R>K | No |
ClinGen gnomAD |
|
|
CA4206142 rs772854097 |
688 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367130983 rs772854097 |
688 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765644965 CA367130996 |
689 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs765644965 CA4206147 |
689 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA367131020 rs1417368354 |
691 | S>L | No |
ClinGen gnomAD |
|
|
CA367131032 rs1361156386 |
692 | M>I | No |
ClinGen gnomAD |
|
|
CA367131029 rs1160380398 |
692 | M>T | No |
ClinGen gnomAD |
|
|
CA367131024 rs1407916462 |
692 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761396453 CA4206149 |
693 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753078831 CA4206148 |
693 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA367131819 rs1336827915 |
700 | S>A | No |
ClinGen gnomAD |
|
|
rs1273624535 CA367131862 |
704 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1347578617 CA367131871 |
705 | I>V | No |
ClinGen gnomAD |
|
|
rs75721044 CA156061579 |
707 | Q>K | No |
ClinGen Ensembl |
|
|
rs776108138 CA367131905 |
708 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA4206167 rs776108138 |
708 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA367131903 rs1256968804 |
708 | D>Y | No |
ClinGen gnomAD |
|
|
CA367131915 rs1330189199 |
709 | L>Q | No |
ClinGen TOPMed |
|
|
rs764306336 CA4206169 |
713 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4206171 rs767756548 |
718 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750501453 CA4206172 |
719 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA367132041 rs1478224881 |
719 | V>M | No |
ClinGen gnomAD |
|
|
rs780349799 CA4206174 |
722 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4206175 rs559061999 |
723 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1408896538 CA367132107 |
724 | P>A | No |
ClinGen TOPMed |
|
|
CA367132117 rs1278593606 |
725 | L>V | No |
ClinGen gnomAD |
|
|
CA367132139 rs1468611166 |
726 | F>L | No |
ClinGen TOPMed |
|
|
rs1397264514 CA367132137 |
726 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1422434626 CA367132158 |
728 | G>R | No |
ClinGen Ensembl |
|
|
rs893984598 CA156061632 |
732 | G>D | No |
ClinGen Ensembl |
|
|
rs777300960 CA4206181 |
735 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4206180 rs551580608 |
735 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs1184395419 | 735 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4206183 rs770378030 |
737 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1023735223 CA156061639 |
739 | E>K | No |
ClinGen Ensembl |
No associated diseases with P41250
5 regional properties for P41250
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | WHEP-TRS domain | 61 - 120 | IPR000738 |
| domain | Aminoacyl-tRNA synthetase, class II (G/ P/ S/T) | 294 - 588 | IPR002314 |
| domain | Anticodon-binding | 611 - 703 | IPR004154 |
| domain | Aminoacyl-tRNA synthetase, class II | 293 - 609 | IPR006195 |
| domain | Glycyl-tRNA synthetase-like core domain | 122 - 466 | IPR033731 |
Functions
| Description | ||
|---|---|---|
| EC Number | 6.1.1.14 | Ligases forming aminoacyl-tRNA and related compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| secretory granule | A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity | Catalysis of the reaction: P(1),P(4)-bis(5'-nucleosyl)tetraphosphate + H2O = NTP + NMP. Acts on bis(5'-guanosyl)-, bis(5'-xanthosyl)-, bis(5'-adenosyl)- and bis(5'-uridyl)-tetraphosphate. |
| glycine-tRNA ligase activity | Catalysis of the reaction: ATP + glycine + tRNA(Gly) = AMP + diphosphate + glycyl-tRNA(Gly). |
| identical protein binding | Binding to an identical protein or proteins. |
| protein dimerization activity | The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. |
| transferase activity | Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| diadenosine tetraphosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of diadenosine tetraphosphate, a derivative of the nucleoside adenosine with four phosphate groups attached. |
| glycyl-tRNA aminoacylation | The process of coupling glycine to glycyl-tRNA, catalyzed by glycyl-tRNA synthetase. The glycyll-tRNA synthetase is a class-II synthetase. The activated amino acid is transferred to the 3'-OH group of a glycine-accepting tRNA. |
| mitochondrial glycyl-tRNA aminoacylation | The process of coupling glycine to glycyl-tRNA in a mitochondrion, catalyzed by glycyl-tRNA synthetase. In tRNA aminoacylation, the amino acid is first activated by linkage to AMP and then transferred to either the 2'- or the 3'-hydroxyl group of the 3'-adenosine residue of the tRNA. |
| tRNA aminoacylation for protein translation | The synthesis of aminoacyl tRNA by the formation of an ester bond between the 3'-hydroxyl group of the most 3' adenosine of the tRNA and the alpha carboxylic acid group of an amino acid, to be used in ribosome-mediated polypeptide synthesis. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q06817 | GRS2 | Glycine--tRNA ligase 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P38088 | GRS1 | Glycine--tRNA ligase 1, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9CZD3 | Gars1 | Glycine--tRNA ligase | Mus musculus (Mouse) | PR |
| Q10039 | gars-1 | Glycine--tRNA ligase | Caenorhabditis elegans | PR |
| Q04451 | GlyRS | Glycine--tRNA ligase | Bombyx mori (Silk moth) | PR |
| Q9FXG2 | At1g29870 | Putative glycine--tRNA ligase, cytoplasmic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPSPRPVLLR | GARAALLLLL | PPRLLARPSL | LLRRSLSAAS | CPPISLPAAA | SRSSMDGAGA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EEVLAPLRLA | VRQQGDLVRK | LKEDKAPQVD | VDKAVAELKA | RKRVLEAKEL | ALQPKDDIVD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RAKMEDTLKR | RFFYDQAFAI | YGGVSGLYDF | GPVGCALKNN | IIQTWRQHFI | QEEQILEIDC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TMLTPEPVLK | TSGHVDKFAD | FMVKDVKNGE | CFRADHLLKA | HLQKLMSDKK | CSVEKKSEME |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SVLAQLDNYG | QQELADLFVN | YNVKSPITGN | DLSPPVSFNL | MFKTFIGPGG | NMPGYLRPET |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AQGIFLNFKR | LLEFNQGKLP | FAAAQIGNSF | RNEISPRSGL | IRVREFTMAE | IEHFVDPSEK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DHPKFQNVAD | LHLYLYSAKA | QVSGQSARKM | RLGDAVEQGV | INNTVLGYFI | GRIYLYLTKV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GISPDKLRFR | QHMENEMAHY | ACDCWDAESK | TSYGWIEIVG | CADRSCYDLS | CHARATKVPL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VAEKPLKEPK | TVNVVQFEPS | KGAIGKAYKK | DAKLVMEYLA | ICDECYITEM | EMLLNEKGEF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TIETEGKTFQ | LTKDMINVKR | FQKTLYVEEV | VPNVIEPSFG | LGRIMYTVFE | HTFHVREGDE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QRTFFSFPAV | VAPFKCSVLP | LSQNQEFMPF | VKELSEALTR | HGVSHKVDDS | SGSIGRRYAR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TDEIGVAFGV | TIDFDTVNKT | PHTATLRDRD | SMRQIRAEIS | ELPSIVQDLA | NGNITWADVE |
| 730 | |||||
| ARYPLFEGQE | TGKKETIEE |