Q15049
PR
Gene name |
MLC1 (KIAA0027, WKL1) |
Protein name |
Membrane protein MLC1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23209 |
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 Q15049
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15049-F1 | Predicted | AlphaFoldDB |
385 variants for Q15049
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000301579 rs142192701 CA10303700 |
12 | Y>S | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000667245 rs1555968785 |
15 | M>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10303692 rs766921234 RCV001278855 |
20 | R>Q | Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000479932 rs184241759 RCV001272318 RCV000490481 RCV002222445 CA10303690 |
22 | R>Q | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16042032 rs1057517228 RCV000410294 |
23 | Q>* | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886057625 RCV000666819 CA10654200 |
25 | P>R | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001274277 COSM190385 RCV000901502 CA10303686 rs201522059 |
26 | A>T | large_intestine Megalencephalic leukoencephalopathy with subcortical cysts [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000411151 CA16042031 rs1057516286 |
28 | Y>* | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001830452 RCV000938884 CA10303683 RCV000671823 rs200382943 |
32 | A>V | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1057516766 RCV000410132 RCV001833490 RCV001380083 |
46 | C>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000004987 RCV001274276 rs80358241 RCV000599600 |
46 | C>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_017438 CA340284 RCV000004986 RCV000293896 rs80358242 RCV001826418 |
59 | G>E | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) Megalencephalic leukoencephalopathy with subcortical cysts MLC1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1436214826 RCV001258387 |
61 | C>* | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000024319 RCV000059741 RCV001826507 CA219962 rs281875309 VAR_067762 |
69 | S>L | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) Variant assessed as Somatic; 0.0 impact. Megalencephalic leukoencephalopathy with subcortical cysts MLC1 [ClinVar, Ensembl, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs794729233 RCV000184054 |
75 | V>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001336254 RCV002546770 CA10303647 rs145484765 |
77 | P>L | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA412111595 rs1378938503 RCV000669265 RCV003155268 |
79 | E>K | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs281875310 VAR_067763 CA219963 RCV000059742 RCV001810419 |
80 | M>I | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) MLC1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA412111559 RCV001506968 RCV002564186 rs1289520784 |
83 | L>F | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs281875311 RCV001831812 VAR_067764 RCV000059743 CA219964 |
84 | R>C | Megalencephalic leukoencephalopathy with subcortical cysts MLC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001172536 rs2062186870 |
86 | A>P | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516336 RCV000409108 |
91 | I>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001378687 RCV000004984 RCV001844006 CA253253 VAR_017439 rs121908345 |
92 | P>S | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) Megalencephalic leukoencephalopathy with subcortical cysts MLC1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_011699 CA340283 RCV001380081 RCV003155016 rs80358245 RCV000004979 |
93 | S>L | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) Megalencephalic leukoencephalopathy with subcortical cysts MLC1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001390442 rs786204747 RCV000169597 |
110 | N>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2062079566 RCV002287898 RCV001248532 |
113 | I>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1458824689 RCV001263686 |
114 | L>* | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062793 rs281875316 RCV002497450 CA090935 |
118 | T>M | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000059744 CA219965 VAR_011700 rs281875316 |
118 | T>R | MLC1 [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs281875314 VAR_067765 CA219966 RCV000059745 |
125 | C>R | MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects interaction with ATP1B1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001263685 rs2062078281 |
126 | L>* | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001263684 rs2062077684 |
131 | C>* | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA412110592 RCV000661966 rs1258044054 |
135 | L>P | Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2062076867 RCV001263683 |
138 | S>* | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121908343 CA253251 VAR_017440 RCV000004982 |
141 | N>K | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) MLC1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
VAR_017441 RCV000004983 rs121908344 CA253252 |
141 | N>S | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) MLC1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000672410 rs1555967227 |
150 | L>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517090 RCV000412051 RCV002523869 |
150 | L>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000020714 rs6010260 CA153702 RCV001826487 RCV001510895 VAR_051186 RCV000117624 |
171 | C>F | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001263682 rs766461175 |
173 | K>* | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001278853 rs373527911 CA325494803 |
178 | M>V | Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001272315 RCV001578761 CA10303474 rs537457768 RCV000919477 COSM190383 |
182 | A>T | Megalencephalic leukoencephalopathy with subcortical cysts 1 large_intestine Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001263681 rs761502278 |
187 | E>* | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002520065 rs148532625 RCV000344988 CA10303468 |
187 | E>D | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000004985 RCV001826417 rs267607236 RCV001383177 |
197 | S>* | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001147294 rs140676811 CA10303464 RCV002557154 |
199 | S>P | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs147572634 RCV001274273 RCV000903585 CA10303437 |
201 | V>I | Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000491615 CA412109375 rs1114167286 |
206 | G>V | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000410276 rs1057517375 |
209 | A>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1035297 rs11568178 RCV000730237 RCV001272312 CA10303433 RCV000665829 RCV000914569 |
210 | V>I | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) endometrium Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar, Ensembl, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_011701 RCV000059746 rs281875317 RCV000668812 RCV000412227 CA412109345 CA219967 |
212 | G>R | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) MLC1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA342172 rs41302601 RCV000487552 RCV000020715 RCV001831592 RCV000734024 |
218 | N>K | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001046663 CA10303417 rs781004589 RCV001274272 |
234 | W>* | Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA219968 VAR_067766 rs281875312 RCV000059747 |
245 | A>P | MLC1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA219969 RCV000059748 VAR_067767 rs281875315 |
246 | S>R | MLC1; does not affect subcellular location [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001780141 rs757250956 RCV001219156 |
252 | C>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel RCV001090092 rs2061767679 |
273 | F>L | Megalencephalic leukoencephalopathy with subcortical cysts 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar dbSNP NCI-TCGA |
|
RCV000672886 rs1227088497 CA412107729 |
274 | T>I | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10303345 rs764669598 RCV001855527 RCV000669743 |
275 | A>D | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1569244190 RCV000768440 CA412107693 |
278 | Y>C | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001263680 rs121908341 |
280 | S>* | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121908341 RCV000004978 CA253250 VAR_011702 |
280 | S>L | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects the interaction with ATP1B1, TRPV4, AQP4 and HEPACAM [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs764754702 CA412106402 RCV000667290 |
301 | Y>* | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000984496 rs768711345 RCV002550584 CA412106297 |
306 | L>Q | Megalencephalic leukoencephalopathy with subcortical cysts 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002532052 RCV000666466 rs761096481 |
308 | L>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000670702 rs540358165 CA10303296 |
308 | L>Q | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA342174 VAR_012731 rs80358240 RCV000020716 |
309 | L>M | Megalencephalic leukoencephalopathy with subcortical cysts 1 a pedigree affected by schizophrenia [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV002531259 rs761096481 RCV000670703 |
310 | L>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001145343 RCV000948140 CA10303291 RCV000243620 rs141225099 |
311 | V>E | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000059749 CA219970 RCV000411937 rs281875313 VAR_067768 |
320 | T>K | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) MLC1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000409034 CA16042025 rs1057516465 RCV001861366 |
325 | Q>* | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002532117 CA10303277 RCV000671821 RCV002532116 rs145376667 |
328 | R>H | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) Inborn genetic diseases [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001278852 rs1407502869 |
331 | V>F | Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139336504 RCV000660578 RCV002532018 CA10303272 |
336 | Q>H | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000117622 RCV000020711 VAR_051187 RCV001831591 RCV001510889 CA153698 rs11568188 |
344 | N>S | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000932726 RCV001274271 rs746212879 CA10303266 |
345 | G>S | Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000990462 rs745656804 RCV001274269 RCV000949112 |
354 | V>SGLWGGGAGEV | Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000667527 rs1555962643 |
356 | R>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000674544 rs1372842345 |
359 | L>missing | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs373419167 CA10303203 RCV001278851 |
361 | E>K | Megalencephalic leukoencephalopathy with subcortical cysts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002529775 CA10303201 RCV002529774 rs779971307 RCV000626105 |
363 | D>N | Megalencephalic leukoencephalopathy with subcortical cysts 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000734022 COSM240675 RCV001578763 CA10303196 rs200273593 |
371 | V>I | Megalencephalic leukoencephalopathy with subcortical cysts 1 Variant assessed as Somatic; 0.0 impact. prostate [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000668617 RCV000667614 rs1555962581 CA412104604 CA412104603 |
378 | Q>R | Megalencephalic leukoencephalopathy with subcortical cysts 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602071075 CA412113003 |
2 | T>P | No |
ClinGen Ensembl |
|
|
rs1602071046 CA412112989 |
3 | Q>R | No |
ClinGen Ensembl |
|
|
CA412112956 rs1335108678 |
6 | F>C | No |
ClinGen gnomAD |
|
|
CA412112954 rs1326856466 |
6 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1397370510 CA412112912 |
10 | L>Q | No |
ClinGen gnomAD |
|
|
CA325498096 rs1047758044 |
11 | A>G | No |
ClinGen TOPMed |
|
|
CA10303701 rs142192701 |
12 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412112900 rs1468469243 |
12 | Y>H | No |
ClinGen gnomAD |
|
|
rs370132302 CA10303698 |
14 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412112880 rs1362564136 |
14 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs370132302 CA10303699 |
14 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs753021568 CA10303696 |
15 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756401742 CA10303697 |
15 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10303695 rs767473385 |
17 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10303694 rs759692106 |
17 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs533294413 CA10303693 |
20 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533294413 CA412112825 |
20 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs202135704 CA10303691 RCV000513476 |
22 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1602070648 CA412112783 |
24 | D>A | No |
ClinGen Ensembl |
|
|
rs770200030 CA10303689 |
24 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA325498058 rs17852565 |
25 | P>T | No |
ClinGen Ensembl |
|
|
CA10303687 rs201522059 |
26 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412112703 rs199625892 |
31 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs193115579 RCV000730243 CA325498026 |
32 | A>P | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs193115579 COSM3781479 CA10303684 |
32 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA10303682 rs138094311 |
34 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412112650 rs1602070407 |
36 | D>A | No |
ClinGen Ensembl |
|
|
rs1487435691 CA412112646 |
36 | D>E | No |
ClinGen TOPMed |
|
|
CA10303679 rs748287655 |
36 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001092859 rs2062239718 |
38 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1442319800 CA412112523 |
42 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA412112470 rs754954583 |
44 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10303677 COSM580305 rs754954583 |
44 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA325498006 rs913644774 |
44 | P>T | No |
ClinGen TOPMed |
|
|
CA10303676 rs751660849 |
49 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291047256 CA412112341 |
51 | T>M | No |
ClinGen gnomAD |
|
|
CA412112321 rs1352146711 |
52 | W>* | No |
ClinGen TOPMed |
|
|
rs762193214 CA10303671 |
58 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315970092 CA412112238 |
58 | M>L | No |
ClinGen gnomAD |
|
|
rs765551035 CA10303672 |
58 | M>T | No |
ClinGen ExAC gnomAD |
|
| rs1247310057 | 60 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA325497170 rs1056395452 |
61 | C>S | No |
ClinGen gnomAD |
|
|
CA10303652 rs376812050 |
66 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412111673 rs1275358780 |
66 | S>T | No |
ClinGen gnomAD |
|
|
rs376812050 CA412111670 |
66 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1602063709 RCV000800745 CA412111628 |
73 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs56886124 CA325497150 |
74 | N>D | No |
ClinGen Ensembl |
|
|
rs893997861 CA325497148 |
74 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs148848827 CA10303648 |
75 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412111605 rs1259479522 |
77 | P>A | No |
ClinGen TOPMed |
|
|
CA412111603 rs145484765 |
77 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412111598 rs1465846856 |
78 | A>D | No |
ClinGen gnomAD |
|
|
rs1174014559 CA412111577 |
81 | D>G | No |
ClinGen gnomAD |
|
|
rs140759469 CA10303644 |
81 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10303643 rs140759469 |
81 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1360582926 CA412111561 |
83 | L>W | No |
ClinGen TOPMed |
|
|
rs1425784992 CA412111556 |
84 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA412111554 rs1425784992 |
84 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA325497105 rs766603387 |
85 | C>R | No |
ClinGen TOPMed |
|
|
rs1381939153 CA412111538 |
87 | A>S | No |
ClinGen TOPMed |
|
|
CA10303641 rs772086919 |
87 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs944398668 CA325496066 |
91 | I>V | No |
ClinGen Ensembl |
|
|
CA10303618 rs778174880 |
98 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs529062080 CA10303616 |
100 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529062080 CA412111269 |
100 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs529062080 CA412111267 |
100 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1185150556 CA412111218 |
104 | N>D | No |
ClinGen gnomAD |
|
|
rs763564142 CA10303615 |
104 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs957087236 CA325496060 |
104 | N>S | No |
ClinGen TOPMed |
|
|
rs754661834 CA10303614 |
105 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs372549729 CA10303613 |
106 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774586398 CA10303587 |
109 | P>L | No |
ClinGen ExAC gnomAD |
|
|
COSM3842910 CA10303586 rs766524233 |
110 | N>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10303585 rs763300792 |
112 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10303584 rs140143664 |
113 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs914830015 CA325495970 |
113 | I>M | No |
ClinGen TOPMed |
|
|
CA412110747 rs140143664 |
113 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412110740 rs1458824689 |
114 | L>S | No |
ClinGen gnomAD |
|
|
CA412110730 rs1374086002 |
115 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 117 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA325495957 rs865879286 |
120 | A>D | No |
ClinGen Ensembl |
|
|
CA10303578 rs777304350 |
120 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1321233758 CA412110695 |
121 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA325495953 rs1035837075 |
123 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs769089143 CA10303577 |
123 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1335201253 CA412110683 |
124 | T>A | No |
ClinGen gnomAD |
|
|
COSM1035298 CA10303576 rs747345174 |
124 | T>M | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10303574 rs757985652 |
127 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA325495936 rs778268835 |
131 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA10303572 rs745594525 |
131 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA10303571 rs778268835 |
131 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA412110616 rs778038540 |
132 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412110623 rs1156311350 |
132 | K>Q | No |
ClinGen gnomAD |
|
|
CA10303569 rs756803473 |
132 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1258044054 CA412110590 |
135 | L>R | No |
ClinGen gnomAD |
|
|
rs1200911481 CA412110587 |
136 | N>D | No |
ClinGen gnomAD |
|
|
rs1349883982 CA412110568 |
137 | P>L | No |
ClinGen gnomAD |
|
|
rs758614290 CA10303566 |
140 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs121908343 | 141 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10303539 rs776109756 |
144 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163541843 CA412109913 |
145 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759969251 CA10303537 |
152 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10303536 rs773937162 |
153 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA412109814 rs1268186982 |
156 | M>V | No |
ClinGen gnomAD |
|
|
CA412109796 rs1219458189 |
157 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
COSM1242516 rs1219458189 CA412109792 |
157 | A>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs748996338 CA10303534 |
158 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777239986 CA10303533 |
159 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747995126 CA10303531 |
161 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10303530 rs574844096 |
162 | I>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs1397666411 CA412109742 |
163 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10303528 rs751401610 |
164 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs757541925 CA10303527 |
165 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1217564000 CA412109723 |
165 | R>Q | No |
ClinGen TOPMed |
|
|
CA10303526 rs757541925 |
165 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754164915 CA10303525 |
166 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA325495161 rs535806134 |
167 | S>N | No |
ClinGen Ensembl |
|
|
rs753096633 CA325495147 |
168 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10303522 rs753096633 |
168 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553215659 CA10303520 |
169 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10303517 rs762559458 |
172 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766461175 CA325495125 |
173 | K>E | No |
ClinGen Ensembl |
|
|
rs772882799 CA10303516 |
175 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs769729417 CA325494808 |
177 | S>Y | No |
ClinGen gnomAD |
|
|
rs986242388 CA325494801 |
178 | M>I | No |
ClinGen gnomAD |
|
|
rs748379279 CA10303477 |
178 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA412109552 rs1157038801 |
179 | S>C | No |
ClinGen TOPMed |
|
|
CA10303473 rs780552437 |
182 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA10303472 rs758691430 |
183 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309634705 CA412109518 |
184 | I>T | No |
ClinGen TOPMed |
|
|
CA412109515 rs1602035628 |
185 | L>V | No |
ClinGen Ensembl |
|
|
rs1242021978 CA412109506 |
186 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA412109501 rs1602035513 |
187 | E>G | No |
ClinGen Ensembl |
|
|
COSM271035 rs761502278 CA10303470 |
187 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761502278 CA10303469 |
187 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10303467 rs144706206 |
188 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs544610516 CA325494773 |
192 | A>G | No |
ClinGen Ensembl |
|
|
CA412109472 rs1320745505 |
192 | A>P | No |
ClinGen gnomAD |
|
|
rs775514234 CA10303465 |
193 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs555304253 CA10303466 |
193 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412109444 rs1379686848 |
197 | S>P | No |
ClinGen gnomAD |
|
|
CA412109432 rs140676811 |
199 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774184754 CA10303463 |
199 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78644350 CA325493274 |
200 | V>F | No |
ClinGen 1000Genomes |
|
|
rs749623663 CA10303436 |
205 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749623663 CA412109384 |
205 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1156659530 CA412109381 |
205 | A>V | No |
ClinGen TOPMed |
|
|
CA412109378 rs1257117156 |
206 | G>C | No |
ClinGen gnomAD |
|
|
rs1257117156 CA412109380 |
206 | G>S | No |
ClinGen gnomAD |
|
|
rs778349575 CA10303435 |
208 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766231298 CA10303430 |
212 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA412109339 rs1376429283 |
213 | G>R | No |
ClinGen gnomAD |
|
|
CA412109331 rs1385666543 |
213 | G>V | No |
ClinGen TOPMed |
|
| rs1449444164 | 214 | I>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 214 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412109315 rs1569247029 |
215 | I>T | No |
ClinGen Ensembl |
|
|
CA412109321 rs1401537228 |
215 | I>V | No |
ClinGen gnomAD |
|
|
CA412109274 rs1177610161 |
219 | V>G | No |
ClinGen gnomAD |
|
|
rs772145062 CA10303425 |
219 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10303424 rs148222920 |
220 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774858564 CA10303423 |
223 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774858564 CA325493157 |
223 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412109193 rs1602022959 |
227 | H>P | No |
ClinGen Ensembl |
|
|
rs1238584031 CA412109195 |
227 | H>Y | No |
ClinGen gnomAD |
|
|
rs1335309796 CA412109182 |
228 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 228 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10303422 rs771337423 |
229 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199773674 CA10303421 |
231 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10303420 rs199773674 |
231 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754443910 CA10303415 |
236 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs765967624 CA10303414 |
237 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765967624 CA10303413 |
237 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568289086 CA10303411 |
238 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1218490866 CA412108265 |
244 | I>L | No |
ClinGen gnomAD |
|
|
rs1339077244 CA412108261 |
244 | I>T | No |
ClinGen gnomAD |
|
|
rs1218490866 CA412108267 |
244 | I>V | No |
ClinGen gnomAD |
|
|
CA412108248 rs1280709060 |
245 | A>V | No |
ClinGen gnomAD |
|
|
CA412108220 CA412108222 rs1401280860 |
247 | H>Q | No |
ClinGen gnomAD |
|
|
rs1343464375 CA412108204 |
249 | A>V | No |
ClinGen gnomAD |
|
|
CA412108190 rs1322424242 |
250 | A>G | No |
ClinGen gnomAD |
|
|
rs1326540840 CA412108197 |
250 | A>P | No |
ClinGen gnomAD |
|
|
rs770416370 CA10303385 |
251 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs866028478 CA325487147 |
251 | E>D | No |
ClinGen Ensembl |
|
|
rs1602006981 CA412108148 |
254 | S>R | No |
ClinGen Ensembl |
|
|
CA412108136 rs1464968724 |
254 | S>R | No |
ClinGen gnomAD |
|
|
rs1421375275 CA412108115 |
256 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1475758973 CA412108107 |
257 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA412108105 rs1475758973 |
257 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1472798637 CA412107875 |
258 | V>M | No |
ClinGen TOPMed |
|
|
CA412107858 rs1358488869 |
259 | E>D | No |
ClinGen gnomAD |
|
|
CA10303358 rs376323039 |
259 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10303356 rs374263651 |
260 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA412107855 rs143061714 |
260 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10303357 rs143061714 |
260 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 263 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412107821 rs1395799135 |
264 | I>V | No |
ClinGen gnomAD |
|
|
CA10303354 rs777790290 |
266 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs747967622 CA10303352 |
268 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10303351 rs780903222 |
268 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212911628 CA412107770 |
269 | S>P | No |
ClinGen gnomAD |
|
|
rs528700157 CA325485339 |
269 | S>Y | No |
ClinGen 1000Genomes |
|
|
rs74315275 CA10303349 |
270 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA325485329 rs74315275 |
270 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1486345207 CA412107762 |
270 | P>S | No |
ClinGen gnomAD |
|
|
rs376331873 CA325485313 |
271 | L>M | No |
ClinGen ESP TOPMed |
|
|
CA10303346 rs201463856 |
274 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs2061767463 RCV001037361 |
275 | A>T | No |
ClinVar dbSNP |
|
|
CA10303344 rs761153635 |
277 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 281 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774026753 CA10303340 |
283 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs774026753 CA10303341 |
283 | I>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412107629 rs1418018088 |
284 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA412107631 rs1418018088 |
284 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772662642 CA10303337 |
287 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1405109455 CA412107590 |
288 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 288 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412107589 rs1405109455 |
288 | E>G | No |
ClinGen gnomAD |
|
|
CA412107572 rs1349677487 |
289 | M>I | No |
ClinGen TOPMed |
|
|
rs1412119778 CA412107577 |
289 | M>T | No |
ClinGen gnomAD |
|
|
CA412107568 rs1184046612 |
290 | F>L | No |
ClinGen gnomAD |
|
|
CA10303336 rs769753836 |
291 | K>R | No |
ClinGen ExAC TOPMed |
|
|
rs1569244149 CA412107532 |
293 | Y>* | No |
ClinGen Ensembl |
|
|
CA10303335 rs748081226 |
293 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs781102921 CA10303334 |
293 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA325485221 rs1050220787 |
294 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1262087733 CA412107511 |
296 | A>S | No |
ClinGen gnomAD |
|
|
CA412106453 rs1432155562 |
299 | P>L | No |
ClinGen gnomAD |
|
|
rs751905253 CA325481986 |
299 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10303304 rs751905253 |
299 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555440220 CA10303302 |
300 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750071175 CA412106410 |
301 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750071175 CA10303301 |
301 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196619166 CA412106399 |
302 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10303299 rs375720249 |
303 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375720249 CA10303298 |
303 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10303297 rs768711345 |
306 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA412106216 rs1569242074 |
311 | V>L | No |
ClinGen Ensembl |
|
|
rs1027755911 CA325481901 |
312 | L>F | No |
ClinGen TOPMed |
|
|
CA412106199 rs1027755911 |
312 | L>I | No |
ClinGen TOPMed |
|
|
COSM364583 rs1569242061 RCV000760802 CA412106136 |
315 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA412106087 rs1397825083 |
317 | G>D | No |
ClinGen gnomAD |
|
|
CA10303288 rs145180481 |
317 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412106075 rs1569242042 |
318 | L>F | No |
ClinGen Ensembl |
|
|
CA10303286 rs781304205 |
319 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1465085799 CA412106057 |
319 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1465085799 CA412106061 |
319 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM3424252 CA10303285 rs281875313 |
320 | T>M | Megalencephalic leukoencephalopathy with subcortical cysts 1 (mlc1) Variant assessed as Somatic; 0.0 impact. large_intestine [Ensembl, NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA412106025 rs1379370296 |
321 | G>A | No |
ClinGen gnomAD |
|
|
CA412106023 rs1379370296 |
321 | G>V | No |
ClinGen gnomAD |
|
|
CA412106013 rs1420704701 |
322 | T>I | No |
ClinGen gnomAD |
|
|
rs1601972056 CA412106021 |
322 | T>P | No |
ClinGen Ensembl |
|
|
rs1420704701 CA412106015 |
322 | T>S | No |
ClinGen gnomAD |
|
|
CA10303281 rs575805979 |
323 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10303280 rs750034062 |
324 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA412105978 rs1211780566 |
325 | Q>H | No |
ClinGen gnomAD |
|
|
rs11568186 CA412105962 |
326 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111520454 CA10303279 RCV000253953 |
327 | V>M | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA10303278 rs753385977 |
328 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760658730 CA10303276 |
331 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA412105870 rs1407502869 |
331 | V>I | No |
ClinGen TOPMed |
|
|
rs1394825927 CA412105854 |
332 | S>G | No |
ClinGen gnomAD |
|
|
rs1314184355 CA412105810 |
334 | R>S | No |
ClinGen gnomAD |
|
|
rs767297272 CA10303275 |
335 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs773419496 CA10303273 |
336 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs748415683 CA10303271 |
338 | A>S | No |
ClinGen ExAC |
|
|
CA10303270 rs776658700 |
339 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA325481807 rs1052877301 |
339 | S>P | No |
ClinGen TOPMed |
|
|
rs1186676458 CA412105666 |
342 | T>I | No |
ClinGen gnomAD |
|
|
CA325481794 rs151277915 |
344 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10303267 rs199707637 |
344 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10303265 rs779394421 |
346 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10303263 rs753585875 |
347 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs763658804 CA412105540 |
347 | Q>L | No |
ClinGen ExAC TOPMed |
|
|
rs763658804 CA10303262 |
347 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs755711398 CA10303261 |
348 | E>G | No |
ClinGen ExAC |
|
|
rs551842465 CA10303258 |
349 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs551842465 CA10303259 |
349 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773991414 CA10303257 |
349 | R>H | No |
ClinGen ExAC |
|
|
rs551842465 CA10303260 |
349 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766199921 CA10303256 |
350 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10303255 rs761978393 |
351 | A>S | No |
ClinGen ExAC |
|
|
rs1339308830 CA412105474 |
351 | A>V | No |
ClinGen gnomAD |
|
|
CA412105447 rs1205080994 |
352 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA412104791 rs1601957785 |
354 | V>G | No |
ClinGen Ensembl |
|
|
rs1275788050 CA412104782 |
356 | R>G | No |
ClinGen gnomAD |
|
|
CA412104777 rs769559923 |
356 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA412104762 rs1339531790 |
358 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10303204 rs780525099 |
359 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA325479583 rs936061235 |
360 | K>T | No |
ClinGen TOPMed |
|
|
rs758396297 CA10303200 |
364 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1401609606 CA412104717 |
365 | E>G | No |
ClinGen gnomAD |
|
|
rs765064183 CA412104705 |
367 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs765064183 CA10303198 |
367 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs985607951 CA325479543 |
371 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA412104671 rs985607951 |
371 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs200459777 CA10303195 |
372 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1205871716 CA412104662 |
373 | V>M | No |
ClinGen gnomAD |
|
|
rs1279009381 CA412104635 |
375 | M>T | No |
ClinGen gnomAD |
|
|
CA412104614 rs1326705393 |
377 | Q>* | No |
ClinGen gnomAD |
|
|
rs771562961 CA10303192 |
377 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA412104599 rs1601957345 |
378 | Q>C | No |
ClinGen Ensembl |
1 associated diseases with Q15049
[MIM: 604004]: Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
A syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild intellectual disability. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes. {ECO:0000269|PubMed:11254442, ECO:0000269|PubMed:11935341, ECO:0000269|PubMed:12189496, ECO:0000269|PubMed:16652334, ECO:0000269|PubMed:22328087}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild intellectual disability. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes. {ECO:0000269|PubMed:11254442, ECO:0000269|PubMed:11935341, ECO:0000269|PubMed:12189496, ECO:0000269|PubMed:16652334, ECO:0000269|PubMed:22328087}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q15049
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q15049 | |||
Functions
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| caveola | A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| 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. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| recycling endosome | An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| protein-containing complex binding | Binding to a macromolecular complex. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| caveolin-mediated endocytosis | An endocytosis process that begins when material is taken up into plasma membrane caveolae, which then pinch off to form endocytic caveolar carriers. |
| cellular response to cholesterol | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholesterol stimulus. |
| ion transport | The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| positive regulation of intracellular transport | Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of response to osmotic stress | Any process that modulates the rate or extent of the response to osmotic stress. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8VHK5 | Mlc1 | Membrane protein MLC1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTQEPFREEL | AYDRMPTLER | GRQDPASYAP | DAKPSDLQLS | KRLPPCFSHK | TWVFSVLMGS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CLLVTSGFSL | YLGNVFPAEM | DYLRCAAGSC | IPSAIVSFTV | SRRNANVIPN | FQILFVSTFA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTTTCLIWFG | CKLVLNPSAI | NINFNLILLL | LLELLMAATV | IIAARSSEED | CKKKKGSMSD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SANILDEVPF | PARVLKSYSV | VEVIAGISAV | LGGIIALNVD | DSVSGPHLSV | TFFWILVACF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PSAIASHVAA | ECPSKCLVEV | LIAISSLTSP | LLFTASGYLS | FSIMRIVEMF | KDYPPAIKPS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YDVLLLLLLL | VLLLQAGLNT | GTAIQCVRFK | VSARLQGASW | DTQNGPQERL | AGEVARSPLK |
| 370 | |||||
| EFDKEKAWRA | VVVQMAQ |