Q9BZV2
PR
Gene name |
SLC19A3 |
Protein name |
Thiamine transporter 2 |
Names |
ThTr-2, ThTr2, Solute carrier family 19 member 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80704 |
EC number |
|
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
1 structures for Q9BZV2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BZV2-F1 | Predicted | AlphaFoldDB |
508 variants for Q9BZV2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000805176 CA2149420 rs747378211 |
2 | D>N | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs773766196 RCV000817072 CA2149419 |
6 | T>N | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001310776 CA273053 rs713993048 RCV000149551 |
7 | S>* | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211359 CA350878110 rs1373557684 |
9 | S>N | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA350878051 RCV000811563 rs1574565534 |
18 | I>V | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001310775 rs121917882 VAR_025992 CA253226 RCV000004824 |
23 | G>V | Variant assessed as Somatic; 0.0 impact. Biotin-responsive basal ganglia disease THMD2 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs786205213 RCV000170443 RCV000367514 |
26 | S>missing | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775835429 RCV000790727 RCV000408606 |
28 | M>missing | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201603239 CA2149410 RCV000818608 |
34 | F>V | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2149408 RCV000730839 rs372637185 RCV001046655 |
36 | I>V | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000721987 rs1559252723 |
38 | Y>missing | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA253228 RCV000004827 rs137852957 |
44 | K>E | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2149363 RCV000640708 rs764398318 |
51 | I>V | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs769102876 CA2149361 RCV001068683 |
56 | F>L | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1695593996 RCV001218486 |
57 | P>T | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200412423 RCV001061337 CA2149359 |
58 | V>F | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001387186 RCV000760653 rs1559250774 CA350877742 |
63 | Y>* | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs144817990 RCV001561553 CA206291 RCV000806997 RCV000193057 |
63 | Y>H | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001216545 rs1695591331 |
65 | V>L | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000656115 rs1553571813 CA350877726 |
66 | L>P | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA66660892 RCV001234509 rs980641322 RCV000488928 |
75 | D>N | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs752029795 RCV001255066 RCV000818153 RCV002535464 CA2149346 |
81 | P>L | Inborn genetic diseases Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000801909 rs200102807 CA2149343 |
87 | G>C | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000656114 CA2149341 rs759807393 |
89 | S>R | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2149339 rs537995579 RCV000697435 |
92 | I>T | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001093254 RCV001873462 rs1695586409 |
94 | W>R | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000813702 CA2149332 RCV000273994 rs780569649 |
109 | V>I | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2149330 RCV001564416 RCV000938104 rs200971390 |
112 | F>S | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001546114 RCV000408622 CA2149329 rs145999922 |
113 | Y>H | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2149326 RCV001205346 rs779294877 |
116 | V>I | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001038260 rs367620430 CA2149323 RCV000997694 COSM461132 |
119 | A>T | cervix Variant assessed as Somatic; 0.0 impact. large_intestine Biotin-responsive basal ganglia disease [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001067418 RCV001732034 CA2149314 rs996377339 |
125 | A>T | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs746490830 RCV001226019 |
128 | Y>* | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770685804 CA2149311 RCV001729844 RCV001302686 |
128 | Y>C | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001049208 CA350877336 rs1423798302 |
128 | Y>H | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA350877323 COSM3695314 RCV001305721 rs1247579454 |
130 | V>M | large_intestine Variant assessed as Somatic; impact. Biotin-responsive basal ganglia disease [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001299185 rs1695578483 |
132 | S>R | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1695577939 RCV001234276 |
134 | E>D | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698025 CA2149305 rs755314399 |
134 | E>K | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201318094 RCV001054776 CA2149301 |
138 | R>G | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000426605 RCV000528317 rs148144444 CA302936 RCV000177348 |
141 | G>S | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2149295 RCV001087388 rs147502239 RCV000733532 |
146 | V>I | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001755834 rs202145913 RCV000525273 RCV002528394 CA66660505 |
154 | G>E | Biotin-responsive basal ganglia disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001342353 rs774845903 |
156 | V>L | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774845903 CA2149290 RCV000596273 RCV001366890 |
156 | V>M | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001587288 RCV001250166 rs1271884981 |
161 | L>missing | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215150 CA2149288 rs749604833 |
161 | L>S | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1468039885 RCV001315689 CA350877125 |
162 | V>I | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA2149286 RCV000696773 RCV002534334 rs144223086 |
165 | A>E | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Biotin-responsive basal ganglia disease [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000486999 rs763130915 RCV001346469 |
168 | S>missing | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1279277694 CA350877052 RCV001246380 |
173 | N>S | Variant assessed as Somatic; impact. Biotin-responsive basal ganglia disease [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000118362 VAR_061864 rs59736804 RCV001083046 RCV000676552 CA289051 |
174 | V>I | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001344210 CA350877030 rs1414881891 |
177 | L>S | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2149275 RCV000997693 rs766950682 RCV001067742 |
178 | A>T | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs773971505 RCV000578309 CA2149273 |
181 | S>P | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA209666 rs758707665 RCV001853110 RCV000195083 |
182 | V>M | Variant assessed as Somatic; 0.0 impact. Biotin-responsive basal ganglia disease [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000785910 CA66660417 rs199970847 |
183 | A>V | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA350876992 rs1329180844 RCV001214715 |
184 | F>S | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1695567093 RCV001205914 |
185 | L>I | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA322152 RCV001722096 rs116533505 RCV000539133 |
186 | F>S | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146949876 CA2149270 RCV000800842 RCV000732174 |
188 | L>V | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1695566021 RCV001296557 |
193 | P>S | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000640709 rs892057479 CA66660401 |
196 | S>N | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs773140674 RCV000640712 RCV001268315 |
200 | H>missing | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767146802 RCV001351366 CA2149261 RCV002509669 |
203 | P>S | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000815888 rs773705000 CA2149259 RCV002284442 |
204 | S>N | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000556127 RCV001251644 RCV000443556 CA2149257 RCV002523120 rs199558186 |
205 | R>G | Intellectual disability Biotin-responsive basal ganglia disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000415854 CA324112 RCV000530460 rs145804755 |
207 | I>M | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs372767819 RCV001137316 |
212 | S>R | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000640706 CA350876803 rs534012377 |
213 | V>L | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA321122 RCV002515432 rs863224203 RCV000196692 |
221 | H>P | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs756104687 CA2149247 RCV001061721 |
224 | E>K | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs139464512 RCV001046822 CA2149246 |
227 | G>D | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2149244 RCV001805172 RCV000542921 rs756864477 |
233 | P>A | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762519804 RCV001345542 |
238 | L>F | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000817266 rs1574558960 CA350876535 |
254 | P>R | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs371155923 CA2149234 RCV000960445 |
260 | D>V | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000640711 rs779016400 COSM4128183 CA2149232 |
261 | V>I | ovary Biotin-responsive basal ganglia disease [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2149231 RCV001212631 rs769689872 |
262 | F>S | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA350876332 rs1553571227 RCV000656117 |
284 | W>R | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001052853 RCV002553297 CA2149224 rs373198092 RCV001819772 |
285 | W>* | Inborn genetic diseases Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs542566978 RCV001760189 RCV001214556 |
288 | A>P | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000691146 rs542566978 COSM1017409 CA66660105 |
288 | A>T | Variant assessed as Somatic; impact. endometrium Biotin-responsive basal ganglia disease [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA325272 RCV000200692 rs746272588 RCV001853198 |
289 | T>A | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001809982 RCV001093253 rs1474448985 |
298 | Y>* | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370104837 CA2149220 RCV001233655 |
298 | Y>C | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199513368 RCV000882379 CA2149219 |
301 | I>V | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1695547539 RCV001174545 |
302 | L>P | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs189540672 CA2149217 RCV000544428 RCV001799679 |
305 | Y>C | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA350876177 rs1453716517 RCV000640705 |
306 | K>R | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000004828 rs137852958 CA253230 |
320 | E>Q | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1282844765 RCV000656116 CA350876082 |
321 | A>V | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs747823282 RCV001556309 CA2149207 RCV002521413 RCV000684964 |
326 | G>V | Inborn genetic diseases Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764278369 CA2149178 RCV001142077 |
328 | A>T | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs773023992 CA2149173 RCV000794115 |
333 | A>V | Variant assessed as Somatic; 0.0 impact. Biotin-responsive basal ganglia disease [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000695001 rs1316990129 CA350875967 |
339 | V>I | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA66658917 rs376305641 RCV000689414 |
342 | D>N | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000534567 RCV000676549 rs34507036 RCV000118358 CA155217 VAR_052405 |
350 | V>A | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000810710 rs1574553914 CA350875892 |
351 | V>F | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000593122 CA2149163 RCV001087078 rs149806390 |
352 | F>L | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs757809128 CA2149165 RCV001068401 |
352 | F>L | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs778139709 CA350875856 RCV001306217 |
357 | A>D | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2149162 rs778139709 RCV001216086 |
357 | A>V | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1559247315 RCV000702941 |
360 | L>missing | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA350875818 rs1559247288 RCV000704158 |
363 | M>I | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001343988 CA350875795 rs1233252115 |
367 | A>T | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000624942 RCV000676548 rs142166552 CA320642 |
371 | A>V | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001301246 CA350875752 RCV000494248 rs1131691470 |
373 | Y>C | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000439271 rs117864472 RCV000547029 CA2149152 |
378 | I>V | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs145288025 RCV000333120 CA2149149 RCV001085971 |
382 | S>N | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2149147 RCV000823366 rs563607795 |
385 | L>P | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000294366 CA323377 rs563607795 |
385 | L>R | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2149145 RCV001312812 rs149282475 |
389 | I>T | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2149130 rs747446540 RCV001338650 |
395 | A>S | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1559242521 RCV000701827 CA350875578 |
398 | L>R | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs150523975 CA2149127 RCV001558668 RCV000950526 |
402 | R>C | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001322644 RCV001760408 rs150523975 RCV002252360 CA2149128 |
402 | R>G | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs779378165 RCV001065872 CA2149126 |
402 | R>H | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2149125 rs755120020 RCV001317080 |
405 | L>F | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001210069 rs1695095166 |
406 | V>A | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2149123 rs749551153 RCV001228809 |
409 | I>L | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1213616391 RCV001298293 |
415 | L>F | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368364131 RCV001086955 RCV000414665 CA2149121 |
418 | Q>E | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1064795112 CA16617491 RCV001856855 RCV000482702 |
418 | Q>R | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000703368 CA350875448 rs1559242384 |
419 | T>N | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000489300 rs121917884 RCV002512775 RCV000004825 VAR_025993 CA253227 |
422 | T>A | Inborn genetic diseases Biotin-responsive basal ganglia disease THMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1553568249 RCV000656113 |
426 | V>missing | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA66655681 rs760162924 RCV001315098 |
434 | P>S | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1245174999 RCV001044063 CA350875338 |
437 | I>F | Variant assessed as Somatic; impact. Biotin-responsive basal ganglia disease [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1695064805 RCV001209643 |
443 | G>V | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001577595 RCV000811380 CA2149096 rs754794859 |
447 | A>T | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201544540 RCV000924786 CA2149094 RCV001664551 |
448 | V>A | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2149092 RCV001047772 rs767080667 |
450 | A>G | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001321163 CA350875235 rs1559241677 |
451 | G>E | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs762173287 RCV001063400 CA2149088 |
455 | M>I | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000640710 rs1308805272 CA350875208 |
455 | M>R | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002530059 RCV000533777 CA2149087 rs138839321 RCV003105950 |
457 | S>N | Biotin-responsive basal ganglia disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001300761 rs1406230125 |
458 | M>missing | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756676536 RCV002515433 RCV000550793 |
460 | I>missing | Inborn genetic diseases Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001142076 rs1201780335 CA350875099 |
471 | Q>R | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001050594 CA2149077 rs754918776 |
480 | D>G | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA2149075 RCV000373769 rs779422483 |
481 | V>A | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368717276 CA2149076 RCV001062076 |
481 | V>M | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA350875020 rs1574540386 RCV000802469 |
483 | H>R | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000807647 CA350875010 rs1574540362 |
484 | P>L | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2149072 RCV003117720 rs540774490 RCV001044146 |
488 | S>T | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1387251145 RCV001036230 |
495 | K>missing | Biotin-responsive basal ganglia disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA66662750 rs984355953 |
3 | C>F | No |
ClinGen Ensembl |
|
|
CA350878143 rs1319391961 |
4 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1461540875 CA350878132 |
5 | R>T | No |
ClinGen gnomAD |
|
|
rs368949246 CA66662732 |
6 | T>A | No |
ClinGen ESP TOPMed |
|
|
rs1472451485 COSM373028 CA350878116 |
8 | L>P | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs748439898 CA2149417 |
10 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264662505 CA350878096 |
11 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 12 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2149416 rs778816786 |
12 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1247672714 CA350878074 |
14 | Y>C | No |
ClinGen gnomAD |
|
|
rs142553867 CA2149415 |
19 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287862643 CA350878039 |
20 | C>S | No |
ClinGen gnomAD |
|
|
CA66662699 rs976521434 |
21 | L>S | No |
ClinGen TOPMed |
|
|
rs121917882 CA2149414 |
23 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350878018 rs1209312070 |
23 | G>R | No |
ClinGen gnomAD |
|
|
rs1272375245 CA350878013 |
24 | F>I | No |
ClinGen gnomAD |
|
|
CA350878002 rs1574565470 |
25 | F>S | No |
ClinGen Ensembl |
|
| rs786205213 | 26 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296450224 CA350877975 |
28 | M>I | No |
ClinGen gnomAD |
|
|
CA2149412 rs751334362 |
29 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA350877969 rs1351230521 |
29 | R>S | No |
ClinGen gnomAD |
|
|
CA350877963 rs1321093527 |
30 | P>L | No |
ClinGen gnomAD |
|
|
CA350877957 rs1404181786 |
31 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 31 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559252781 CA350877946 |
33 | P>S | No |
ClinGen Ensembl |
|
|
rs376764604 CA2149409 |
35 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1241452578 CA350877927 |
36 | I>T | No |
ClinGen TOPMed |
|
|
CA2149407 rs759094678 |
37 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs766975844 CA2149405 |
38 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs368305641 CA2149406 |
38 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275760674 CA350877912 |
39 | L>V | No |
ClinGen gnomAD |
|
|
CA2149404 rs761309307 |
40 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773678018 CA2149403 |
43 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2149402 rs772514747 |
46 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA350877858 rs1272646707 |
47 | T>I | No |
ClinGen gnomAD |
|
|
CA350877856 rs1574565267 |
48 | S>G | No |
ClinGen Ensembl |
|
|
CA2149399 rs768551143 |
48 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1131691902 CA350877842 RCV000494363 |
50 | E>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs749364879 CA2149398 |
50 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1131691902 CA350877844 |
50 | E>K | No |
ClinGen gnomAD |
|
|
CA350877808 rs1412270295 |
53 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 54 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs183021027 CA2149362 |
55 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200412423 CA2149358 |
58 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA350877766 rs1177722977 |
60 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 61 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350877756 rs1574560910 |
61 | Y>S | No |
ClinGen Ensembl |
|
|
CA350877749 rs1266097365 |
62 | S>C | No |
ClinGen gnomAD |
|
|
rs1266097365 CA350877748 |
62 | S>F | No |
ClinGen gnomAD |
|
|
rs1574560880 CA350877744 |
63 | Y>S | No |
ClinGen Ensembl |
|
|
rs1484028218 CA350877738 |
64 | L>Q | No |
ClinGen gnomAD |
|
|
CA350877728 rs1390228508 |
66 | L>V | No |
ClinGen TOPMed |
|
|
rs1431161790 CA350877719 |
68 | L>M | No |
ClinGen TOPMed |
|
|
CA2149354 rs774152328 |
69 | P>L | No |
ClinGen ExAC |
|
|
rs768590734 CA2149353 |
70 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2149352 rs748889067 |
72 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs373943165 CA2149351 |
73 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2149350 rs568987417 |
74 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350877686 rs1574560781 |
74 | T>P | No |
ClinGen Ensembl |
|
|
rs1329744665 CA350877658 |
78 | R>C | No |
ClinGen TOPMed |
|
|
CA2149348 rs757743169 |
78 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs757743169 CA2149347 |
78 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1574560714 CA350877649 |
79 | Y>* | No |
ClinGen Ensembl |
|
| TCGA novel | 80 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350877640 rs1307893537 |
81 | P>S | No |
ClinGen gnomAD |
|
|
CA350877616 rs1464287492 |
84 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1301426956 CA350877621 |
84 | I>V | No |
ClinGen gnomAD |
|
|
CA2149344 rs758769189 |
85 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2149342 rs370463398 |
87 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA350877587 rs759807393 |
89 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA350877584 rs1181303768 COSM1017412 |
89 | S>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs776737721 CA2149340 |
92 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761757947 CA2149338 |
93 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1483082721 CA350877533 |
97 | L>P | No |
ClinGen gnomAD |
|
|
rs1252280462 CA350877515 |
100 | G>R | No |
ClinGen gnomAD |
|
|
CA2149336 rs768496977 |
102 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs749088473 CA2149335 |
103 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327117771 CA350877496 |
103 | V>L | No |
ClinGen gnomAD |
|
|
CA350877497 rs1327117771 |
103 | V>M | No |
ClinGen gnomAD |
|
|
CA350877485 rs1342774605 |
104 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1311096123 CA350877482 |
105 | T>S | No |
ClinGen gnomAD |
|
|
CA2149334 COSM574003 rs769548199 |
106 | M>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2149333 rs745538722 |
107 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA350877463 rs1320760736 |
108 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 109 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350877448 rs1370331656 |
110 | E>G | No |
ClinGen Ensembl |
|
|
rs770362150 CA2149331 |
111 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA350877435 rs1451259233 |
112 | F>V | No |
ClinGen TOPMed |
|
|
rs1164678779 CA350877420 |
114 | G>A | No |
ClinGen TOPMed |
|
|
rs753042231 CA2149327 |
115 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758965276 CA2149328 |
115 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs755184234 CA2149325 |
117 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs755184234 CA350877404 |
117 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1321806557 CA350877400 COSM1241746 |
118 | A>T | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs367620430 CA350877393 |
119 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760673468 CA2149322 |
119 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350877390 rs1347868865 COSM1482823 |
120 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA350877376 rs1366317721 |
122 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1436882836 CA350877368 |
123 | Y>H | No |
ClinGen gnomAD |
|
|
CA350877358 rs1362579294 |
124 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2149315 rs996377339 |
125 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2149313 rs759172102 |
126 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA2149312 rs776155153 |
127 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1043220238 CA66660690 |
129 | S>G | No |
ClinGen TOPMed |
|
|
CA350877319 rs1199678520 |
130 | V>A | No |
ClinGen gnomAD |
|
|
rs1574560084 CA350877278 |
136 | Y>S | No |
ClinGen Ensembl |
|
|
CA2149303 rs780137522 |
137 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA2149304 rs780137522 |
137 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA350877263 rs1226635528 |
138 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1159158748 CA350877266 |
138 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1574560025 CA350877259 |
139 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 139 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2149300 rs199993913 |
140 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2149299 rs148144444 |
141 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2149297 rs765014189 |
142 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs752695150 CA2149298 |
142 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1354992602 CA350877245 |
142 | Y>N | No |
ClinGen TOPMed |
|
|
rs1574559955 CA350877238 |
143 | C>R | No |
ClinGen Ensembl |
|
|
CA350877220 rs1229268629 |
145 | S>N | No |
ClinGen TOPMed |
|
|
CA350877217 rs76517176 CA350877218 |
145 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147502239 CA2149296 |
146 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350877204 rs1427504152 |
148 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs117013375 CA350877194 |
150 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs117013375 CA2149293 |
150 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2149292 rs771596384 |
151 | Y>F | No |
ClinGen ExAC |
|
|
rs1479116365 CA350877190 |
151 | Y>H | No |
ClinGen gnomAD |
|
|
CA350877182 rs1198871973 |
152 | T>A | No |
ClinGen gnomAD |
|
|
rs759400157 CA66660512 |
153 | A>S | No |
ClinGen Ensembl |
|
|
CA350877172 rs1485371682 |
154 | G>R | No |
ClinGen gnomAD |
|
|
CA350877165 rs1574559784 |
155 | S>A | No |
ClinGen Ensembl |
|
|
rs1131691615 RCV000494124 CA350877162 |
155 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1574559747 CA350877157 |
156 | V>G | No |
ClinGen Ensembl |
|
|
rs898880170 CA66660483 |
163 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA350877115 RCV000493510 rs898880170 |
163 | S>Y | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1272626560 CA350877107 |
165 | A>P | No |
ClinGen gnomAD |
|
|
CA2149287 rs144223086 |
165 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2149285 rs376414109 |
167 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA66660478 rs987149246 |
167 | M>L | No |
ClinGen gnomAD |
|
|
rs987149246 CA350877097 |
167 | M>V | No |
ClinGen gnomAD |
|
|
CA2149284 rs139611208 |
168 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
CA350877088 rs1352081682 |
168 | S>P | No |
ClinGen TOPMed |
|
|
CA2149283 rs139611208 |
168 | S>W | No |
ClinGen ESP ExAC TOPMed |
|
|
CA350877059 rs1312646834 |
172 | L>R | No |
ClinGen TOPMed |
|
|
CA2149279 rs59736804 |
174 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760275734 CA2149277 |
175 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 176 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772868648 CA2149276 |
176 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761311668 CA2149274 |
180 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769023339 CA2149272 |
181 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA350876981 rs1289653894 |
186 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1449885447 CA350876941 |
192 | M>T | No |
ClinGen gnomAD |
|
|
rs754828557 CA350876923 |
194 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs201613826 CA66660404 |
195 | K>R | No |
ClinGen 1000Genomes |
|
|
CA350876914 rs1457858397 |
196 | S>G | No |
ClinGen gnomAD |
|
|
CA66660399 rs1035879074 |
197 | M>I | No |
ClinGen TOPMed |
|
|
rs370725962 CA2149266 |
198 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2149265 rs766034963 |
198 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 199 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170716029 CA350876890 |
199 | F>S | No |
ClinGen TOPMed |
|
|
CA2149263 rs755912406 |
200 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs750288573 CA2149262 |
202 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA350876869 rs1368877111 |
202 | K>R | No |
ClinGen TOPMed |
|
|
rs374886592 CA66660379 |
204 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2149260 rs374886592 |
204 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs763692436 CA2149258 |
204 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474936760 CA350876847 |
206 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350876837 rs770488061 |
208 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2149255 rs201274864 COSM1225995 |
208 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs770488061 CA2149256 |
208 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1752400 CA2149253 rs534012377 |
213 | V>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1037546626 CA66660317 |
215 | P>L | No |
ClinGen gnomAD |
|
|
rs1487627565 CA350876776 |
217 | L>S | No |
ClinGen gnomAD |
|
|
CA350876772 rs776587805 |
218 | E>K | No |
ClinGen gnomAD |
|
|
CA66660316 rs776587805 |
218 | E>Q | No |
ClinGen gnomAD |
|
|
rs566555288 CA2149252 |
220 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350876747 rs141096991 |
221 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749116382 CA2149249 |
223 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA66660296 rs987409474 |
227 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781006365 CA2149245 |
231 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA350876683 rs1489682124 |
231 | Q>R | No |
ClinGen Ensembl |
|
|
rs751247194 CA2149243 |
233 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs763445769 CA2149242 |
234 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs762519804 CA2149241 |
238 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1252999399 CA350876612 |
242 | G>E | No |
ClinGen TOPMed |
|
|
rs1223744032 CA350876597 |
244 | L>R | No |
ClinGen gnomAD |
|
|
rs974434874 CA66660255 |
245 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752205415 CA2149240 |
246 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66660245 rs369214674 |
246 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs548559478 CA2149239 |
246 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376021977 CA2149237 |
251 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1368458303 CA350876555 |
251 | S>N | No |
ClinGen gnomAD |
|
|
rs747550083 CA66660236 CA350876552 |
251 | S>R | No |
ClinGen TOPMed |
|
|
CA2149236 rs760746323 |
253 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2149235 rs773492879 |
255 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1309034188 CA350876522 |
256 | N>S | No |
ClinGen gnomAD |
|
|
rs1431943783 CA350876516 |
257 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA350876505 rs1213603372 |
259 | V>M | No |
ClinGen TOPMed |
|
|
CA350876485 rs769689872 |
262 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78613486 CA66660212 |
263 | V>L | No |
ClinGen Ensembl |
|
|
rs1272962302 CA350876472 |
264 | Q>R | No |
ClinGen TOPMed |
|
|
CA2149229 rs780918181 |
273 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs906111441 CA66660174 |
274 | S>F | No |
ClinGen Ensembl |
|
|
rs1268006436 CA350876369 |
278 | L>P | No |
ClinGen gnomAD |
|
|
rs377709852 CA2149227 |
279 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs989413073 CA66660163 |
280 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs989413073 CA350876356 |
280 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777467103 CA2149226 |
282 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1461065680 CA350876337 |
283 | L>V | No |
ClinGen gnomAD |
|
|
CA2149225 rs758033000 |
285 | W>R | No |
ClinGen ExAC |
|
|
rs1289482106 CA350876289 |
290 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1162464509 CA350876266 |
293 | N>K | No |
ClinGen TOPMed |
|
|
CA2149221 rs754406086 |
295 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1574558558 RCV001008836 |
299 | V>missing | No |
ClinVar dbSNP |
|
|
CA350876226 rs1559249124 RCV000713318 |
299 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA350876202 rs1322524231 |
303 | W>* | No |
ClinGen TOPMed |
|
|
rs761983238 CA2149216 |
306 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs377204541 CA2149214 |
307 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350876173 rs377204541 |
307 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377204541 CA350876174 |
307 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745748807 CA2149213 |
307 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA350876159 rs1194997448 |
309 | S>F | No |
ClinGen gnomAD |
|
|
CA350876154 rs1483708842 |
310 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1257911380 CA350876148 |
311 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746794574 CA2149210 |
314 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2149211 rs770832071 |
314 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA350876122 rs1333780558 |
315 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA66660053 rs148363337 |
316 | N>S | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 317 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 317 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1017407 CA2149209 rs372511010 |
319 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA350876097 rs372511010 |
319 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350876092 rs137852958 |
320 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758025317 CA2149208 |
323 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA66660048 rs933274402 |
324 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA350876065 rs933274402 |
324 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA66660040 rs747823282 |
326 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747823282 CA66660044 |
326 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350876037 rs1248803297 |
327 | G>E | No |
ClinGen gnomAD |
|
|
rs1211013989 CA350876018 |
330 | A>V | No |
ClinGen gnomAD |
|
|
rs765250819 CA2149175 |
331 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs765250819 CA2149176 |
331 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2149171 rs761691445 |
335 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA350875951 rs1395917397 |
341 | W>G | No |
ClinGen TOPMed |
|
| TCGA novel | 341 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774340569 CA2149170 |
345 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA66658914 rs768394851 |
348 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2149169 rs768394851 |
348 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34507036 CA350875896 |
350 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746320128 CA2149166 |
351 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs746320128 CA350875890 |
351 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs757809128 CA2149164 |
352 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113140685 CA66658894 |
355 | V>A | No |
ClinGen Ensembl |
|
|
CA66658888 rs985258067 |
356 | N>D | No |
ClinGen Ensembl |
|
|
CA350875858 rs1453840554 |
357 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1453840554 CA350875860 |
357 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350875852 rs1344961969 |
358 | G>A | No |
ClinGen TOPMed |
|
|
rs758563802 CA2149161 |
358 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 362 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2149160 rs752873680 |
363 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1435570788 CA350875812 |
364 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 365 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350875804 rs1337026051 |
365 | Y>S | No |
ClinGen gnomAD |
|
|
rs201784334 CA2149159 |
366 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2149158 rs201784334 |
366 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201089756 CA66658870 |
367 | A>G | No |
ClinGen 1000Genomes |
|
|
CA2149157 rs754010837 |
368 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA66658852 rs201899804 |
372 | C>W | No |
ClinGen Ensembl |
|
|
CA2149154 rs768594837 |
372 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1200779229 CA350875732 |
376 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 376 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 382 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16604081 RCV000423967 rs1057524556 |
383 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1034063734 CA66658834 |
383 | Y>H | No |
ClinGen Ensembl |
|
|
CA350875680 rs1473191700 |
384 | M>L | No |
ClinGen gnomAD |
|
|
rs1023251201 CA66658827 |
384 | M>R | No |
ClinGen TOPMed |
|
|
CA2149148 rs771385639 |
385 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs758764828 CA2149146 |
388 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs887859933 CA66658819 |
388 | T>S | No |
ClinGen Ensembl |
|
|
rs1200553865 CA350875636 |
391 | V>A | No |
ClinGen gnomAD |
|
|
rs1416240998 CA350875613 |
393 | Q>E | No |
ClinGen gnomAD |
|
|
CA350875608 rs1284547056 |
393 | Q>H | No |
ClinGen gnomAD |
|
|
rs1356543355 CA350875606 |
394 | I>L | No |
ClinGen TOPMed |
|
|
CA350875602 rs1247360747 |
394 | I>T | No |
ClinGen TOPMed |
|
|
CA2149129 rs773702095 |
395 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA66655752 rs373842224 |
396 | V>F | No |
ClinGen ESP gnomAD |
|
|
CA66655750 rs748911011 |
399 | N>S | No |
ClinGen Ensembl |
|
|
CA350875561 rs1393851716 |
401 | E>V | No |
ClinGen gnomAD |
|
|
rs913601886 CA66655739 |
403 | Y>C | No |
ClinGen Ensembl |
|
|
CA350875552 rs1400600019 |
403 | Y>H | No |
ClinGen gnomAD |
|
|
rs1165860726 CA350875534 |
406 | V>I | No |
ClinGen gnomAD |
|
|
CA350875508 rs1085307963 RCV000489741 |
410 | N>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA66655731 rs769334251 |
411 | T>I | No |
ClinGen Ensembl |
|
|
rs939104141 CA66655727 |
412 | F>L | No |
ClinGen Ensembl |
|
|
rs780225624 CA2149122 |
412 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350875483 rs1485886352 |
413 | I>M | No |
ClinGen gnomAD |
|
|
rs1243316128 CA350875481 |
414 | A>P | No |
ClinGen gnomAD |
|
|
rs575776889 CA66655718 |
414 | A>V | No |
ClinGen Ensembl |
|
|
rs1446343370 CA350875468 |
416 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 417 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2149120 rs777526582 |
420 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258441503 CA350875436 |
421 | M>L | No |
ClinGen TOPMed |
|
|
rs764115267 CA2149119 |
421 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA2149118 rs758399720 |
422 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1475415170 CA350875422 |
423 | V>A | No |
ClinGen TOPMed |
|
|
CA350875417 rs752393233 |
424 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752393233 CA2149117 |
424 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350875405 rs1440728788 |
426 | V>A | No |
ClinGen gnomAD |
|
|
rs765102172 CA2149116 |
426 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1287180895 CA350875399 |
427 | D>G | No |
ClinGen gnomAD |
|
|
rs1430733241 CA350875389 |
428 | Q>H | No |
ClinGen gnomAD |
|
|
CA2149115 rs759052209 |
429 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA350875378 rs1457402047 |
430 | G>A | No |
ClinGen TOPMed |
|
|
CA350875376 rs1457402047 |
430 | G>E | No |
ClinGen TOPMed |
|
|
CA2149114 rs776267565 |
431 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2149112 rs760162924 |
434 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA350875343 rs1428724373 |
436 | S>N | No |
ClinGen gnomAD |
|
|
CA2149111 rs772754355 |
436 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1028198147 CA66655676 |
437 | I>T | No |
ClinGen Ensembl |
|
|
CA350875306 rs1268005008 |
439 | F>L | No |
ClinGen gnomAD |
|
|
rs752692523 CA2149098 COSM1494805 |
440 | L>F | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA66655385 rs866964106 |
441 | V>F | No |
ClinGen TOPMed |
|
|
CA350875299 rs866964106 |
441 | V>I | No |
ClinGen TOPMed |
|
|
CA2149097 rs778504165 |
442 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs778504165 CA350875291 |
442 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs863224204 CA321539 RCV000197098 |
444 | S>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA350875272 rs1221159820 |
445 | Y>D | No |
ClinGen Ensembl |
|
|
rs753688316 CA2149095 |
448 | V>I | No |
ClinGen ExAC |
|
|
rs767080667 CA2149091 |
450 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140706520 CA2149089 |
452 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1308805272 CA350875209 |
455 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 456 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2149086 rs200054205 |
457 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763399127 CA2149085 |
458 | M>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000997691 CA350875175 rs1574540571 |
460 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2149082 rs746112899 |
462 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA350875143 rs1459527616 |
465 | K>E | No |
ClinGen TOPMed |
|
|
CA2149081 rs371306240 |
466 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 467 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350875116 rs1248115554 |
468 | K>N | No |
ClinGen gnomAD |
|
|
rs771047329 CA2149080 |
469 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1373661310 CA350875110 |
469 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA66655295 rs1049927448 |
470 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA350875081 rs1323467541 |
474 | A>T | No |
ClinGen gnomAD |
|
|
rs1174565632 CA350875077 |
474 | A>V | No |
ClinGen TOPMed |
|
|
rs1261774743 CA350875049 |
478 | N>T | No |
ClinGen gnomAD |
|
|
CA2149078 rs778892693 |
479 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 482 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350875024 rs1448976336 |
482 | S>F | No |
ClinGen TOPMed |
|
|
CA350875028 rs1400719120 |
482 | S>P | No |
ClinGen TOPMed |
|
|
rs1338153783 CA350874997 |
486 | E>G | No |
ClinGen gnomAD |
|
|
CA350874988 rs1449774004 |
487 | E>V | No |
ClinGen gnomAD |
|
|
CA350874975 rs1455265235 |
489 | N>T | No |
ClinGen gnomAD |
|
|
CA2149068 rs764642918 COSM477017 |
492 | M>I | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs192876801 CA2149070 |
492 | M>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs1553568041 CA323879 |
493 | S>* | No |
ClinGen Ensembl |
|
|
CA350874941 rs1445470133 |
494 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350874937 rs1362986324 |
494 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
1 associated diseases with Q9BZV2
[MIM: 607483]: Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2)
An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. {ECO:0000269|PubMed:15871139}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. {ECO:0000269|PubMed:15871139}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9BZV2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9BZV2 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| thiamine transmembrane transporter activity | Enables the transfer of thiamine from one side of a membrane to the other. Thiamine is vitamin B1, a water soluble vitamin present in fresh vegetables and meats, especially liver. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| thiamine transmembrane transport | The process in which thiamine is transported across a membrane. Thiamine is vitamin B1, a water soluble vitamin present in fresh vegetables and meats, especially liver. |
| thiamine transport | The directed movement of thiamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Thiamine is vitamin B1, a water soluble vitamin present in fresh vegetables and meats, especially liver. |
| thiamine-containing compound metabolic process | The chemical reactions and pathways involving thiamine (vitamin B1), and compounds derived from it. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P41440 | SLC19A1 | Reduced folate transporter | Homo sapiens (Human) | PR |
| P41438 | Slc19a1 | Reduced folate transporter | Mus musculus (Mouse) | PR |
| O45166 | folt-2 | Folate-like transporter 2 | Caenorhabditis elegans | PR |
| Q17766 | folt-1 | Folate transporter 1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDCYRTSLSS | SWIYPTVILC | LFGFFSMMRP | SEPFLIPYLS | GPDKNLTSAE | ITNEIFPVWT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YSYLVLLLPV | FVLTDYVRYK | PVIILQGISF | IITWLLLLFG | QGVKTMQVVE | FFYGMVTAAE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VAYYAYIYSV | VSPEHYQRVS | GYCRSVTLAA | YTAGSVLAQL | LVSLANMSYF | YLNVISLASV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SVAFLFSLFL | PMPKKSMFFH | AKPSREIKKS | SSVNPVLEET | HEGEAPGCEE | QKPTSEILST |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SGKLNKGQLN | SLKPSNVTVD | VFVQWFQDLK | ECYSSKRLFY | WSLWWAFATA | GFNQVLNYVQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ILWDYKAPSQ | DSSIYNGAVE | AIATFGGAVA | AFAVGYVKVN | WDLLGELALV | VFSVVNAGSL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FLMHYTANIW | ACYAGYLIFK | SSYMLLITIA | VFQIAVNLNV | ERYALVFGIN | TFIALVIQTI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MTVIVVDQRG | LNLPVSIQFL | VYGSYFAVIA | GIFLMRSMYI | TYSTKSQKDV | QSPAPSENPD |
| 490 | |||||
| VSHPEEESNI | IMSTKL |