Q9HCG7
PR
Gene name |
GBA2 |
Protein name |
Non-lysosomal glucosylceramidase |
Names |
NLGase, Beta-glucocerebrosidase 2, Beta-glucosidase 2, Bile acid beta-glucosidase GBA2, Bile acid glucosyl transferase GBA2, Cholesterol glucosyltransferase GBA2, Cholesteryl-beta-glucosidase GBA2, Glucosylceramidase 2, Non-lysosomal cholesterol glycosyltransferase, Non-lysosomal galactosylceramidase, Non-lysosomal glycosylceramidase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57704 |
EC number |
3.2.1.45: Glycosidases, ie enzymes hydrolyzing O- and S-glycosyl compounds |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9HCG7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HCG7-F1 | Predicted | AlphaFoldDB |
723 variants for Q9HCG7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1025071865 RCV001071684 CA192768170 |
6 | P>Q | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000614876 rs779487525 RCV000863833 CA5050801 |
10 | G>E | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002517355 RCV000203172 rs776346547 CA249374 RCV001331162 |
45 | C>S | Hereditary spastic paraplegia 46 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001239024 rs746551074 |
49 | E>* | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1827116262 RCV001267592 RCV002537701 |
55 | K>missing | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs141800351 RCV000633063 CA5050777 |
73 | E>K | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA373420519 rs776095931 RCV000814414 |
87 | R>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000813696 RCV000999167 rs143885818 RCV001331164 CA5050769 |
89 | C>S | Hereditary spastic paraplegia 46 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5050760 RCV001545896 rs140988229 RCV001849158 RCV000862289 |
109 | S>N | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003133611 rs1247383766 RCV000796462 CA373420310 |
114 | H>R | Hereditary spastic paraplegia 46 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1588023668 RCV000790865 CA373419691 |
121 | Y>* | Hereditary spastic paraplegia 46 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081406 | 121 | Y>del | SPG46; loss of glucosylceramide catabolic process [UniProt] | Yes | UniProt |
|
CA5050733 rs143493395 RCV000469510 |
130 | H>Y | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5050731 rs767302670 RCV001210926 |
136 | P>T | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5050703 RCV000552967 rs192753525 |
164 | R>H | Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000802099 CA5050700 rs749351473 |
172 | R>C | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002549119 RCV001815017 rs200268523 RCV000999165 CA5050699 |
172 | R>H | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000526525 rs200268523 CA373419032 |
172 | R>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA373419027 RCV000790866 rs1588022768 |
173 | W>* | Hereditary spastic paraplegia 46 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081407 | 173 | W>del | SPG46; loss of glucosylceramide catabolic process [UniProt] | Yes | UniProt |
|
RCV000691507 CA5050650 rs781642238 |
216 | S>R | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA5050646 RCV001849002 RCV001336004 rs145436860 RCV000633023 |
220 | G>D | Hereditary spastic paraplegia Hereditary spastic paraplegia 46 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA130874 RCV001268639 rs398123013 RCV000034370 |
234 | R>* | Hereditary spastic paraplegia 46 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_081408 | 234 | R>del | SPG46; loss of glucosylceramide catabolic process [UniProt] | Yes | UniProt |
|
rs1387168151 RCV000817868 CA373416854 RCV001849117 |
235 | A>G | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs370954241 CA5050633 RCV001849099 RCV000794591 |
249 | T>I | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001341825 CA5050631 rs769204863 |
251 | R>H | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002543626 CA5050605 rs373010940 RCV001313401 |
269 | G>A | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000633070 CA5050601 rs142602400 RCV002261141 |
272 | V>A | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000802481 rs762754270 CA5050599 |
275 | V>M | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002525596 CA5050584 RCV000467925 rs371758545 |
314 | R>H | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs113785628 CA5050579 RCV000429507 RCV001848009 RCV002512067 RCV000227448 CA192761874 |
316 | G>R | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000699228 rs368192956 RCV001336005 RCV001849065 CA5050574 |
320 | R>Q | Hereditary spastic paraplegia Hereditary spastic paraplegia 46 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001043691 RCV000034373 rs398123014 CA130876 |
340 | R>* | Hereditary spastic paraplegia 46 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_081409 | 340 | R>del | SPG46; loss of glucosylceramide catabolic process [UniProt] | Yes | UniProt |
|
RCV000509470 rs750984776 CA5050536 RCV002524938 |
344 | A>P | Hereditary spastic paraplegia 46 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762266200 RCV000702227 CA5050534 |
346 | T>A | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5050533 RCV001637048 RCV001848837 rs34353044 RCV000458830 |
346 | T>M | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA373415746 rs1342067395 RCV000528087 |
353 | F>S | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5050526 rs372699319 RCV000707023 |
358 | T>M | Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002533708 rs201219745 RCV000704319 CA5050519 |
365 | D>N | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1826595849 RCV001070232 |
370 | G>R | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001848007 CA5050485 rs142607078 RCV001084099 RCV000231814 |
399 | R>P | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000602674 rs79325774 RCV001084879 RCV001848834 CA5050471 RCV000514885 |
423 | G>S | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5050451 rs748661440 RCV000791041 |
429 | R>W | Hereditary spastic paraplegia 46 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001848927 CA5050435 rs78197987 RCV000533839 |
453 | A>E | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5050436 RCV003160358 rs145802357 RCV001046919 RCV001336003 |
453 | A>T | Hereditary spastic paraplegia 46 Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147443644 RCV000226711 RCV003165646 CA5050402 |
474 | A>T | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1826525053 RCV001250476 |
482 | N>H | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588010939 RCV000034372 |
492 | T>missing | Hereditary spastic paraplegia 46 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001311780 rs35818148 RCV000500016 CA5050392 RCV001039689 |
499 | E>K | Spastic paraplegia Hereditary spastic paraplegia 5A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1826516488 RCV001201652 |
511 | C>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5050376 rs115051365 RCV001201654 |
514 | R>C | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000863630 CA5050372 rs199920123 |
516 | T>A | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001331163 RCV001848008 RCV000229631 rs142883889 RCV001311779 CA5050370 |
518 | R>W | Hereditary spastic paraplegia Hereditary spastic paraplegia 46 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000463975 RCV001311778 RCV001848814 rs371611090 CA5050367 |
521 | G>S | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001322596 CA373410854 rs1451500934 |
568 | R>K | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs754998392 RCV001239112 CA5050301 |
575 | R>Q | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000476045 rs146085561 CA5050302 |
575 | R>W | Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs398123064 CA145524 VAR_081410 RCV000077800 |
594 | D>H | Hereditary spastic paraplegia 46 SPG46; loss of glucosylceramide catabolic process [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1035304750 RCV000814143 CA192759366 |
595 | I>T | Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1826437611 RCV001250475 |
603 | W>R | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3848500 rs754032114 COSM3848498 CA5050268 RCV000695316 |
606 | V>I | Variant assessed as Somatic; 0.0 impact. Spastic paraplegia breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001230300 CA5050260 rs371925764 |
628 | V>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
RCV000034369 VAR_069634 CA130873 rs398123012 RCV000515985 |
630 | R>W | Hereditary spastic paraplegia Hereditary spastic paraplegia 46 SPG46; loss of glucosylceramide catabolic process [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000700116 CA373409630 rs1563957812 |
647 | V>M | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001219336 rs542233713 CA5050222 |
663 | D>V | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001201655 CA373408837 rs1313074779 |
672 | A>T | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs989227836 RCV001072047 |
700 | V>A | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808482 rs1011987148 CA192758919 |
701 | Q>* | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001349723 rs750088946 CA5050181 |
721 | R>W | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1273177779 RCV001204088 CA373408146 |
725 | A>T | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001848928 CA5050161 rs142621039 RCV001591201 RCV000526854 |
734 | R>H | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000687537 rs1448182827 |
735 | Y>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200894732 RCV001848929 RCV000542604 CA5050159 RCV001591202 |
740 | S>R | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5050157 RCV002534599 rs201520272 RCV000796392 |
743 | R>Q | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000807550 rs778985234 RCV001091824 CA5050103 |
809 | V>I | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1163977326 RCV001221281 CA373403287 |
823 | G>C | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs138519801 CA5050041 RCV001070233 |
847 | G>D | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs752274637 RCV003133160 RCV000171423 CA236323 |
850 | R>C | Hereditary spastic paraplegia 46 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5050037 RCV001306953 rs374335041 |
855 | R>C | Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000808767 CA5050036 rs762268140 RCV003166276 |
855 | R>H | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003162814 CA5050033 rs199510198 RCV000633044 |
870 | R>Q | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs398123015 VAR_069635 CA130878 RCV000034374 RCV000515888 |
873 | R>H | Hereditary spastic paraplegia Hereditary spastic paraplegia 46 SPG46; loss of glucosylceramide catabolic process [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000805434 CA373400955 rs1588001500 |
879 | R>Q | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA373400723 RCV000798300 rs1588001323 |
895 | H>D | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000816828 RCV001849116 CA5050023 rs767031907 |
900 | W>* | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5050022 rs754527190 RCV000809092 |
901 | P>R | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1424143333 CA373421089 |
2 | G>E | No |
ClinGen gnomAD |
|
|
rs1479417586 CA373421081 |
3 | T>I | No |
ClinGen gnomAD |
|
|
rs1293383964 CA373421080 |
4 | Q>* | No |
ClinGen gnomAD |
|
|
CA5050805 rs747628882 |
4 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1230786669 CA373421057 |
7 | G>E | No |
ClinGen gnomAD |
|
|
rs1200302615 CA373421051 |
8 | N>S | No |
ClinGen TOPMed |
|
|
rs376468097 CA5050803 |
9 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5050802 rs200812873 |
9 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 11 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373421008 rs1303442731 |
15 | A>S | No |
ClinGen gnomAD |
|
|
rs138710286 CA5050800 |
16 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373421003 rs1219851656 |
16 | S>P | No |
ClinGen gnomAD |
|
|
rs150799972 CA5050799 |
17 | E>K | No |
ClinGen ESP ExAC |
|
|
CA192768154 rs995899736 |
19 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5050798 rs756454920 |
19 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1166152970 CA373420961 |
22 | A>S | No |
ClinGen gnomAD |
|
|
CA373420915 rs1362015169 |
28 | V>A | No |
ClinGen TOPMed |
|
|
rs1300867019 CA373420919 |
28 | V>I | No |
ClinGen TOPMed |
|
|
rs767561209 CA5050796 |
30 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5050794 rs780000488 |
31 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5050795 rs780000488 |
31 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs766330748 CA5050793 |
32 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA373420886 rs1178519384 |
33 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1439927550 CA373420871 |
35 | G>C | No |
ClinGen gnomAD |
|
|
CA373420873 rs1439927550 |
35 | G>S | No |
ClinGen gnomAD |
|
|
CA373420866 rs1239131022 |
36 | G>S | No |
ClinGen gnomAD |
|
|
CA5050792 rs371559563 |
37 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1588030931 CA373420856 |
38 | K>Q | No |
ClinGen Ensembl |
|
|
CA5050791 rs773033377 |
39 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373420823 rs1337733550 |
42 | V>A | No |
ClinGen TOPMed |
|
|
rs1220523657 CA373420818 |
43 | T>K | No |
ClinGen TOPMed |
|
|
rs767989187 CA5050787 |
45 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs776346547 CA5050788 |
45 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs1588030827 CA373420787 |
47 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5050786 rs746551074 |
49 | E>K | No |
ClinGen ExAC |
|
|
CA5050784 rs779248440 |
52 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs771603994 CA5050783 |
52 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771603994 CA373420756 |
52 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5050782 rs749647252 |
53 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA373420745 rs1563969995 |
54 | P>R | No |
ClinGen Ensembl |
|
|
rs1450147320 CA373420742 |
55 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452970084 CA373420718 |
58 | D>A | No |
ClinGen gnomAD |
|
|
rs1217598031 CA373420707 |
59 | C>* | No |
ClinGen TOPMed |
|
|
CA192768011 rs1056543949 |
59 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1159953299 CA373420664 |
65 | S>C | No |
ClinGen gnomAD |
|
|
CA373420657 rs1563969935 |
66 | G>E | No |
ClinGen Ensembl |
|
|
rs1266850801 CA373420662 |
66 | G>R | No |
ClinGen gnomAD |
|
|
CA5050778 rs368109318 |
67 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751695530 CA5050776 |
73 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA192767988 rs1051470845 |
75 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1258712815 CA373420596 |
76 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5050775 rs766275675 |
77 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs758381932 CA5050774 |
78 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1485841403 CA373420581 |
78 | G>R | No |
ClinGen gnomAD |
|
|
CA192767971 rs539726491 |
80 | Q>E | No |
ClinGen Ensembl |
|
|
CA192767961 rs931758120 |
83 | P>S | No |
ClinGen TOPMed |
|
|
rs761678152 CA5050771 |
84 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA5050770 rs776095931 |
87 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs775188360 CA5050767 |
91 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1343135345 CA373420495 |
91 | A>V | No |
ClinGen TOPMed |
|
|
rs144816679 CA192767914 |
92 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1588030364 CA373420479 |
94 | F>V | No |
ClinGen Ensembl |
|
|
rs771552800 CA5050766 |
95 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs771552800 CA373420467 |
95 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA373420465 RCV000999166 rs1588030338 |
96 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1364491395 CA373420448 |
98 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1364491395 CA373420447 |
98 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5050765 rs749878330 |
98 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs773860042 CA5050764 |
100 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1229527886 CA373420434 |
100 | P>S | No |
ClinGen gnomAD |
|
|
rs1301948345 CA373420431 |
101 | F>I | No |
ClinGen TOPMed |
|
|
CA373420411 rs1370516729 |
103 | A>G | No |
ClinGen gnomAD |
|
|
CA373420398 rs1165968544 |
105 | N>S | No |
ClinGen gnomAD |
|
|
CA373420393 rs1356288340 |
106 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 107 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA192767887 rs369629772 |
108 | L>P | No |
ClinGen gnomAD |
|
|
CA5050761 rs781234931 |
109 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5050759 rs747040683 |
110 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA373420360 rs1220459901 |
110 | N>K | No |
ClinGen gnomAD |
|
|
rs148020856 CA5050758 |
111 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5050757 rs148020856 |
111 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226377620 CA373420313 |
114 | H>Y | No |
ClinGen gnomAD |
|
|
CA373420290 rs1305596659 |
116 | G>S | No |
ClinGen gnomAD |
|
|
CA5050755 rs765178460 |
118 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA192765683 rs866608573 |
123 | Q>H | No |
ClinGen Ensembl |
|
|
CA373419664 rs1588023649 |
124 | W>* | No |
ClinGen Ensembl |
|
|
CA192765678 rs770658514 |
125 | W>* | No |
ClinGen Ensembl |
|
|
CA192765658 rs373450271 |
127 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373450271 CA5050737 |
127 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5050738 rs377217110 |
127 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757268252 CA5050736 |
128 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5050735 rs753561069 |
129 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1239733696 CA373419589 |
130 | H>P | No |
ClinGen gnomAD |
|
|
CA373419573 rs1178990807 |
131 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5050732 rs752341841 |
133 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA373419497 rs1287598040 |
136 | P>L | No |
ClinGen TOPMed |
|
|
rs1345024135 CA373419477 |
137 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1108772 CA5050728 rs765644563 |
139 | D>N | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762444252 CA5050727 |
142 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 143 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373419330 rs1447949140 |
148 | Q>* | No |
ClinGen gnomAD |
|
|
CA5050707 rs368771988 |
155 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373419224 rs1180514834 |
155 | G>D | No |
ClinGen TOPMed |
|
|
rs368771988 CA373419227 |
155 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373419202 RCV000498494 rs1450303709 |
158 | G>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs760993141 CA5050706 |
159 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5050705 rs778928893 |
161 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373419151 rs1416246273 |
163 | T>S | No |
ClinGen TOPMed |
|
|
CA192765379 rs867545153 |
164 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA373419121 rs1263274510 |
166 | W>* | No |
ClinGen gnomAD |
|
|
rs980564749 CA192765375 |
166 | W>R | No |
ClinGen TOPMed |
|
|
rs1322260883 CA373419104 |
167 | R>K | No |
ClinGen TOPMed |
|
|
CA5050702 rs774442784 |
168 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148826503 CA5050701 |
169 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5050698 rs769895987 |
173 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA373419014 rs1278119280 |
174 | Q>* | No |
ClinGen gnomAD |
|
|
rs1342387701 CA373418970 |
177 | P>A | No |
ClinGen gnomAD |
|
|
CA5050696 rs781195372 |
177 | P>R | No |
ClinGen ExAC |
|
|
CA373418934 rs1346417750 |
179 | M>I | No |
ClinGen TOPMed |
|
|
CA373418915 rs1298906814 |
181 | Q>P | No |
ClinGen gnomAD |
|
|
rs202051129 CA5050694 |
183 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5050695 rs754676245 |
183 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5050693 COSM1674485 COSM1674486 rs553994777 |
187 | A>T | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA373417110 rs1376403919 |
194 | L>M | No |
ClinGen gnomAD |
|
|
CA5050666 rs766604330 |
195 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs537986230 CA5050665 |
195 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773341732 CA5050664 |
196 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA192762556 rs912152927 |
196 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA192762552 rs1021344098 |
198 | G>W | No |
ClinGen TOPMed |
|
|
rs765345498 CA5050663 |
200 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5050661 rs1554667023 |
202 | Y>C | No |
ClinGen Ensembl |
|
|
CA373417034 rs1160145071 |
206 | L>P | No |
ClinGen gnomAD |
|
|
COSM252518 CA5050657 rs760492879 |
210 | R>C | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1725890 COSM1725889 rs200824511 CA5050656 |
210 | R>H | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5050655 rs771750320 |
212 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs745445324 CA5050654 |
213 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5050652 COSM1108770 rs770380073 |
215 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs770380073 CA5050653 |
215 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5050651 rs748828496 |
215 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354082523 CA373416968 |
217 | W>C | No |
ClinGen gnomAD |
|
|
rs755488228 CA5050649 |
217 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA192762520 rs181610996 |
218 | N>S | No |
ClinGen 1000Genomes |
|
|
CA5050648 rs751942556 |
219 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1475790708 CA373416956 |
219 | W>* | No |
ClinGen TOPMed |
|
|
rs374250804 CA5050647 |
220 | G>S | No |
ClinGen ESP ExAC |
|
|
rs558919665 CA5050645 |
221 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373416934 rs1398835177 |
223 | G>E | No |
ClinGen gnomAD |
|
|
CA373416936 rs765583323 CA5050644 |
223 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761949175 CA5050643 |
225 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA373416899 rs1588017787 |
228 | Y>S | No |
ClinGen Ensembl |
|
|
CA192762500 rs989633952 |
229 | H>R | No |
ClinGen TOPMed |
|
|
rs398123013 CA373416861 |
234 | R>G | No |
ClinGen gnomAD |
|
|
rs189609145 CA5050641 |
234 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373416849 rs1422490068 |
236 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760594027 CA5050640 |
239 | Y>C | No |
ClinGen ExAC |
|
|
rs775500784 CA5050638 |
241 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1261143897 CA373416792 |
244 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5050635 rs539236531 |
246 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs539236531 CA5050636 |
246 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5050634 rs770611288 |
247 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs770611288 CA373416779 |
247 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1265124014 CA373416770 |
248 | L>P | No |
ClinGen gnomAD |
|
|
rs1242308831 CA373416768 |
249 | T>P | No |
ClinGen gnomAD |
|
|
CA5050632 rs762730206 |
251 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762730206 CA192762472 |
251 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA373416736 rs1339045615 |
254 | T>A | No |
ClinGen TOPMed |
|
|
CA373416719 rs1217936848 |
256 | I>M | No |
ClinGen gnomAD |
|
|
CA373416715 rs1225938581 |
257 | L>S | No |
ClinGen TOPMed |
|
|
rs1284323294 CA373416700 |
259 | H>R | No |
ClinGen TOPMed |
|
|
rs780629548 CA5050629 |
260 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5050609 rs779484917 |
263 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144948886 CA5050606 |
268 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5050603 rs767336525 |
270 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA373416600 rs142602400 |
272 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1239934070 CA373416593 |
273 | W>C | No |
ClinGen gnomAD |
|
|
rs766099304 CA5050600 |
274 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs772695395 CA5050598 |
277 | N>K | No |
ClinGen ExAC |
|
|
CA373416524 rs1205620714 |
281 | E>D | No |
ClinGen TOPMed |
|
|
CA373416514 rs1234911914 |
282 | A>V | No |
ClinGen gnomAD |
|
|
rs1312382312 CA373416506 |
283 | L>V | No |
ClinGen gnomAD |
|
|
rs761202572 CA5050596 |
284 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954541417 CA192761957 |
286 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5050595 COSM1730489 rs369388405 COSM1730488 |
287 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA373416441 rs1333877655 |
288 | M>V | No |
ClinGen gnomAD |
|
|
CA5050593 rs147741018 |
289 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373416424 rs1392493222 |
289 | F>L | No |
ClinGen gnomAD |
|
|
rs772699881 CA5050594 |
289 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1395894323 CA373416387 |
291 | M>I | No |
ClinGen gnomAD |
|
|
rs367777270 CA192761940 |
291 | M>V | No |
ClinGen ESP TOPMed |
|
|
CA192761922 rs984394650 |
292 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA373416383 rs1158343993 |
292 | R>W | No |
ClinGen gnomAD |
|
|
CA373416355 rs1239795233 |
294 | G>A | No |
ClinGen gnomAD |
|
|
CA373416331 rs1588015420 |
296 | G>D | No |
ClinGen Ensembl |
|
|
rs1254045030 CA373416338 |
296 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373416340 rs1254045030 |
296 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1201653110 CA373416311 |
298 | G>E | No |
ClinGen gnomAD |
|
|
COSM1108769 CA373416294 rs1284860522 |
300 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5050588 rs756408401 |
301 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781401822 CA5050586 |
304 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1421299653 CA373416246 |
304 | G>S | No |
ClinGen TOPMed |
|
|
rs1337000118 CA373416232 |
305 | L>W | No |
ClinGen TOPMed |
|
|
CA373416159 rs1290155249 |
311 | C>R | No |
ClinGen TOPMed |
|
|
rs1340358880 CA373416149 |
312 | L>P | No |
ClinGen gnomAD |
|
|
rs1340358880 CA373416148 |
312 | L>R | No |
ClinGen gnomAD |
|
|
CA373416151 rs1240333053 |
312 | L>V | No |
ClinGen gnomAD |
|
|
rs1000532303 CA192761892 |
314 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5050583 rs371758545 |
314 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5050581 rs369520290 |
315 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373416124 rs1472373046 |
317 | E>Q | No |
ClinGen gnomAD |
|
|
rs1588015115 CA373416120 |
317 | E>V | No |
ClinGen Ensembl |
|
|
CA5050576 rs760282844 |
318 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1213945385 CA373416107 |
319 | V>G | No |
ClinGen gnomAD |
|
|
rs1261850554 CA373416111 |
319 | V>L | No |
ClinGen gnomAD |
|
|
CA373416106 rs774957816 |
320 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5050575 rs774957816 |
320 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763206049 CA5050573 |
321 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs769905389 CA5050571 |
323 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1247647001 CA373416082 |
325 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs748337634 CA5050570 |
325 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1247647001 CA373416083 |
325 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5050569 rs781287250 |
328 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1398271895 CA373416054 |
329 | L>H | No |
ClinGen gnomAD |
|
|
CA373416033 rs1481310623 |
331 | N>S | No |
ClinGen TOPMed |
|
|
rs544471081 CA5050567 |
332 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544471081 CA5050568 |
332 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373415996 rs1423985966 |
334 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1388313996 CA373415985 |
335 | M>T | No |
ClinGen gnomAD |
|
|
rs750177623 CA5050564 |
337 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA373415948 rs1160633694 |
338 | A>V | No |
ClinGen TOPMed |
|
|
CA373415945 rs778700584 |
339 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5050563 rs778700584 |
339 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs398123014 CA5050562 |
340 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373415930 rs1588014819 |
340 | R>Q | No |
ClinGen Ensembl |
|
|
CA373415927 rs1298135283 |
341 | V>I | No |
ClinGen TOPMed |
|
|
rs142303353 CA5050560 |
342 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1563961868 CA373415850 |
343 | A>E | No |
ClinGen Ensembl |
|
|
CA373415838 rs1273829463 |
344 | A>V | No |
ClinGen gnomAD |
|
|
CA373415826 rs1176220861 |
345 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1375958921 CA373415812 |
347 | V>I | No |
ClinGen gnomAD |
|
|
CA373415786 rs1390409123 |
349 | H>R | No |
ClinGen TOPMed |
|
|
CA5050530 rs775678280 |
351 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA373415738 rs1331344800 |
354 | D>N | No |
ClinGen TOPMed |
|
|
rs745906723 CA5050528 |
356 | D>G | No |
ClinGen ExAC |
|
|
CA192761606 rs138775145 |
356 | D>H | No |
ClinGen ESP gnomAD |
|
|
rs138775145 CA373415712 |
356 | D>N | No |
ClinGen ESP gnomAD |
|
|
rs774378557 CA373415689 |
357 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192761590 rs758413388 |
360 | Q>K | No |
ClinGen Ensembl |
|
|
rs777643568 CA373415643 CA5050524 |
361 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755967440 CA5050523 |
362 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA373415626 RCV000520412 rs780684206 |
363 | W>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5050521 rs780684206 |
363 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA5050520 rs557256643 |
364 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373415510 rs1588013761 RCV000999164 |
368 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA192761536 rs972337945 |
369 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 369 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221292882 CA373415382 |
376 | T>A | No |
ClinGen Ensembl |
|
|
rs757642405 CA5050515 |
376 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373415228 rs1379556812 |
379 | S>R | No |
ClinGen TOPMed |
|
|
rs1261304804 CA373415217 |
380 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1261304804 CA373415219 |
380 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1588013046 CA373415214 |
381 | P>S | No |
ClinGen Ensembl |
|
|
rs754394408 CA5050491 |
382 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373415189 rs754394408 |
382 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000732726 CA373415141 rs756503362 |
385 | G>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5050489 rs756503362 |
385 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219229342 CA373415118 |
386 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA192761367 rs901729995 |
392 | V>A | No |
ClinGen Ensembl |
|
|
rs753011667 CA5050488 |
393 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1040312084 CA192761359 |
393 | C>Y | No |
ClinGen Ensembl |
|
|
rs974578519 CA192761349 |
396 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1297193125 CA373414920 |
399 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5050486 rs142607078 |
399 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192761320 rs112979503 |
401 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs112979503 CA373414886 |
401 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs112979503 CA5050483 COSM295080 |
401 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5050481 rs773320309 |
403 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372718939 CA5050482 |
403 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769812175 CA5050480 |
405 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs138013344 CA5050479 |
405 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192761284 rs138013344 |
405 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1488274117 CA373414770 |
409 | S>L | No |
ClinGen TOPMed |
|
|
CA373414753 rs1563961065 |
410 | L>P | No |
ClinGen Ensembl |
|
|
rs529918549 CA5050477 |
412 | W>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373414716 rs1189221836 |
413 | D>G | No |
ClinGen gnomAD |
|
|
rs779737599 CA5050475 |
414 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253543320 CA373414706 |
414 | M>V | No |
ClinGen gnomAD |
|
|
rs1375949237 CA373414667 |
418 | M>T | No |
ClinGen TOPMed |
|
|
rs1033853219 CA192761115 |
420 | G>E | No |
ClinGen TOPMed |
|
|
rs961026469 CA192761116 |
420 | G>R | No |
ClinGen TOPMed |
|
|
rs745344565 CA5050473 |
422 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs778276589 CA5050472 |
422 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5050470 rs753111236 |
423 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs79325774 CA373414631 |
423 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373414607 rs1373658161 |
425 | V>I | No |
ClinGen gnomAD |
|
|
CA5050450 rs781707357 |
429 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192760170 rs1004329552 |
432 | R>G | No |
ClinGen TOPMed |
|
|
rs372379752 CA373413916 |
434 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372379752 CA5050448 |
434 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192760161 rs957036184 |
435 | G>C | No |
ClinGen Ensembl |
|
|
rs564921378 CA5050447 |
436 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758630888 CA5050446 |
436 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5050445 rs750532229 |
437 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 437 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375794123 CA373413826 |
439 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA192760130 rs887183389 |
440 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA373413814 rs887183389 |
440 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757341992 CA5050443 |
442 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1291612581 CA373413792 |
442 | P>R | No |
ClinGen TOPMed |
|
|
CA373413784 rs1422674866 |
443 | A>S | No |
ClinGen gnomAD |
|
|
rs1254812113 CA373413762 |
444 | L>P | No |
ClinGen gnomAD |
|
|
CA5050440 rs760410155 |
445 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1330085972 CA373413705 |
448 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 448 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373413692 rs1284925339 |
449 | L>M | No |
ClinGen gnomAD |
|
|
rs1284925339 CA373413691 |
449 | L>V | No |
ClinGen gnomAD |
|
|
rs1374033198 CA373413673 |
450 | C>Y | No |
ClinGen TOPMed |
|
|
rs1238546800 CA373413661 |
451 | R>* | No |
ClinGen TOPMed |
|
|
rs200048828 COSM3848506 COSM3848504 CA5050438 |
451 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1563960485 CA588145595 |
452 | Y>* | No |
ClinGen Ensembl |
|
|
CA192760085 rs370008139 |
452 | Y>H | No |
ClinGen ESP |
|
|
CA5050434 rs748799304 |
454 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1007467017 CA192760068 |
455 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1563960420 CA373413608 |
455 | W>G | No |
ClinGen Ensembl |
|
|
rs1356322601 CA373413567 |
457 | E>D | No |
ClinGen gnomAD |
|
|
rs1416755813 CA373413572 |
457 | E>V | No |
ClinGen gnomAD |
|
|
rs777033909 CA5050433 |
459 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769153909 CA5050432 |
464 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747345187 COSM74733 CA5050431 |
465 | P>L | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1425592301 CA373413441 |
466 | V>L | No |
ClinGen TOPMed |
|
|
rs779248937 CA5050428 |
468 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA5050427 rs779248937 |
468 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5050426 rs757315005 |
469 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1475280964 CA373413389 COSM1743409 COSM1743410 |
469 | D>V | biliary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs147443644 CA192759933 |
474 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1272423277 CA373413252 |
474 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1212927783 CA373413221 |
476 | Y>D | No |
ClinGen gnomAD |
|
|
rs760556459 CA192759925 |
477 | K>R | No |
ClinGen Ensembl |
|
|
CA373413185 rs1271048706 |
478 | S>P | No |
ClinGen gnomAD |
|
|
rs373844114 CA5050399 |
479 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA373413132 rs144576980 |
481 | F>L | No |
ClinGen TOPMed |
|
|
rs765958666 CA5050397 |
482 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441576282 CA373413068 |
485 | Y>* | No |
ClinGen gnomAD |
|
|
CA373412920 rs1563959900 |
494 | W>C | No |
ClinGen Ensembl |
|
|
rs764854323 CA5050394 |
496 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs750035212 CA5050395 |
496 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1588010889 CA373412836 |
497 | V>G | No |
ClinGen Ensembl |
|
|
rs535916550 CA5050391 |
500 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs535916550 CA373412769 |
500 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1297969756 CA373412721 |
501 | S>Y | No |
ClinGen TOPMed |
|
|
CA5050390 rs759994346 |
502 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1393682642 CA373412682 |
502 | L>V | No |
ClinGen gnomAD |
|
|
CA5050388 rs371251592 |
503 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1438805973 CA373412635 |
504 | E>K | No |
ClinGen TOPMed |
|
|
rs376682234 CA5050387 |
505 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5050384 rs748184614 |
505 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5050386 rs376682234 |
505 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769956055 CA5050385 |
505 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA5050383 rs781128831 |
506 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA373412511 rs1305395279 |
509 | N>Y | No |
ClinGen gnomAD |
|
|
rs965754773 CA5050380 |
510 | M>I | No |
ClinGen TOPMed |
|
|
rs754848763 CA5050382 CA373412474 |
510 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311629583 CA373412470 |
510 | M>T | No |
ClinGen TOPMed |
|
|
CA373412481 rs754848763 |
510 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5050379 rs567502691 |
511 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567502691 CA373412454 |
511 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373412369 rs1453131828 |
512 | H>Q | No |
ClinGen TOPMed |
|
|
rs148982744 CA5050375 |
514 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA373412302 rs1432515986 |
515 | P>H | No |
ClinGen gnomAD |
|
|
CA5050371 rs760188888 |
516 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5050373 rs199920123 |
516 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1225634502 CA373412204 |
517 | L>R | No |
ClinGen gnomAD |
|
|
rs376867651 CA5050369 |
518 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373412118 rs1406178388 |
520 | Y>C | No |
ClinGen TOPMed |
|
|
CA5050366 rs769952538 |
522 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA5050365 rs748239761 |
522 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373411939 rs1282794072 |
525 | Y>C | No |
ClinGen gnomAD |
|
|
rs1316126026 CA373411892 |
527 | E>K | No |
ClinGen gnomAD |
|
|
rs1164912503 CA373411735 |
528 | G>D | No |
ClinGen gnomAD |
|
|
rs757000051 CA5050348 |
529 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs776818180 CA5050347 |
532 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs776818180 CA373411608 |
532 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs768769126 CA5050346 |
532 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA373411567 rs1417702416 |
533 | M>I | No |
ClinGen gnomAD |
|
|
rs1317730630 CA373411573 |
533 | M>K | No |
ClinGen gnomAD |
|
|
CA373411530 rs1188035446 |
534 | Y>* | No |
ClinGen gnomAD |
|
|
rs1414915442 CA373411541 |
534 | Y>C | No |
ClinGen TOPMed |
|
|
CA373411508 rs1486112968 |
535 | N>S | No |
ClinGen gnomAD |
|
|
rs747024085 CA5050345 |
536 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA373411457 rs1353288322 |
537 | Y>C | No |
ClinGen TOPMed |
|
|
rs1211751711 CA373411377 |
540 | H>R | No |
ClinGen gnomAD |
|
|
CA373411317 rs1232419832 |
542 | Y>C | No |
ClinGen gnomAD |
|
|
rs1273300646 CA373411291 |
543 | A>G | No |
ClinGen gnomAD |
|
|
CA373411216 rs1332353381 |
546 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5050342 rs775523082 |
547 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs149803758 CA5050339 |
548 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192759614 rs11539261 |
549 | M>I | No |
ClinGen Ensembl |
|
|
CA5050335 rs367589812 |
553 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367589812 CA5050336 |
553 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396472258 CA373411080 |
555 | E>Q | No |
ClinGen gnomAD |
|
|
rs1439382530 CA373411059 |
556 | L>H | No |
ClinGen gnomAD |
|
|
rs1439382530 CA373411058 |
556 | L>P | No |
ClinGen gnomAD |
|
|
rs752097163 CA5050334 |
557 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA373411043 rs1238530377 |
557 | S>N | No |
ClinGen Ensembl |
|
|
CA5050333 rs138330598 |
559 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5050332 rs139815660 |
559 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1360661591 CA373411001 |
560 | Y>C | No |
ClinGen gnomAD |
|
|
rs1371556873 CA373411003 |
560 | Y>D | No |
ClinGen gnomAD |
|
|
rs750933950 CA5050331 |
562 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192759555 rs1018215095 |
562 | M>T | No |
ClinGen gnomAD |
|
|
CA373410900 rs1311360726 |
563 | A>V | No |
ClinGen gnomAD |
|
|
CA373410869 rs1436280657 |
566 | T>I | No |
ClinGen gnomAD |
|
|
rs764308884 CA5050308 |
567 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5050306 rs752951773 |
573 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767543132 CA5050305 |
573 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5050307 rs752951773 |
573 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759632589 CA5050304 |
574 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA373410777 rs758216604 |
574 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758216604 CA5050303 |
574 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5050300 rs773074625 |
576 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349130992 CA373410768 |
576 | Y>H | No |
ClinGen gnomAD |
|
|
rs571370571 CA5050299 |
578 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1291605500 CA373410728 |
579 | S>N | No |
ClinGen gnomAD |
|
|
CA5050297 rs780871073 CA5050298 |
581 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373410711 rs780871073 |
581 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370968821 CA192759405 |
582 | M>I | No |
ClinGen ESP TOPMed |
|
|
CA373410681 COSM269229 rs1317345720 |
583 | A>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5050296 rs768089215 |
584 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5050295 rs746479938 |
588 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779409424 CA5050294 |
589 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs779409424 CA192759379 |
589 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA5050293 rs757696726 |
589 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs377731521 CA5050291 |
590 | V>I | No |
ClinGen ESP ExAC TOPMed |
|
|
rs911281550 CA192759371 |
593 | H>R | No |
ClinGen Ensembl |
|
|
CA373410509 rs1306837618 |
597 | D>G | No |
ClinGen gnomAD |
|
|
rs970552870 CA192759318 |
600 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 602 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5050272 rs771561405 |
604 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs188152192 CA5050271 |
605 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5050270 COSM1650907 rs563054828 COSM608941 |
605 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA373410354 rs754032114 |
606 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554666059 CA373410337 RCV000497731 |
607 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA192759296 rs200767655 |
608 | A>E | No |
ClinGen Ensembl |
|
|
CA5050267 rs781283627 |
612 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 613 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373410245 rs1353234677 |
614 | T>S | No |
ClinGen gnomAD |
|
|
CA5050266 rs755182103 |
615 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5050264 rs766623252 |
617 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA5050263 rs758527257 |
619 | D>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000999163 CA373410171 rs1169051189 |
619 | D>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5050262 rs750363712 |
620 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA373410065 rs1370840113 |
624 | F>S | No |
ClinGen gnomAD |
|
|
rs765179539 CA5050261 |
625 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs371925764 CA5050259 |
628 | V>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA5050258 rs760382060 |
631 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs775101452 CA5050257 |
632 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5050256 rs771612356 |
634 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5050255 rs144239565 COSM293380 |
635 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs1209879263 CA373409861 |
636 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA373409860 rs1209879263 |
636 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA192759213 rs773394218 |
637 | D>N | No |
ClinGen Ensembl |
|
|
rs1394491709 CA373409763 |
640 | F>L | No |
ClinGen gnomAD |
|
|
CA192759203 rs911321937 |
643 | D>N | No |
ClinGen TOPMed |
|
|
CA5050252 rs748465218 COSM1207960 |
645 | W>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1305864517 CA373409631 |
646 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 649 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345106167 CA373409467 |
651 | V>L | No |
ClinGen gnomAD |
|
|
rs1360186202 CA373409434 |
652 | M>L | No |
ClinGen TOPMed |
|
|
rs1458833526 CA373409307 |
656 | M>L | No |
ClinGen gnomAD |
|
|
rs1220994292 CA373409291 |
656 | M>T | No |
ClinGen TOPMed |
|
|
rs753858360 CA5050225 |
657 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1164429662 CA373409145 |
660 | K>R | No |
ClinGen gnomAD |
|
|
CA192759107 rs888193424 |
661 | D>H | No |
ClinGen TOPMed |
|
|
CA192759102 rs1047206008 |
662 | H>R | No |
ClinGen TOPMed |
|
|
CA5050223 rs542233713 |
663 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 663 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 665 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1485423623 CA373408980 |
666 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 668 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5050220 rs759299364 |
668 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA373408926 rs1563957485 |
669 | G>E | No |
ClinGen Ensembl |
|
|
rs751157787 CA5050219 |
669 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA192759071 rs993808206 |
670 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs765963308 CA5050218 |
670 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777305994 CA5050216 |
671 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA373408795 rs1229183191 |
674 | Q>* | No |
ClinGen gnomAD |
|
|
CA373408709 rs1301982587 |
676 | Y>C | No |
ClinGen gnomAD |
|
|
rs576463423 CA5050214 |
680 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1390072289 CA373408516 |
682 | T>A | No |
ClinGen gnomAD |
|
|
CA373408497 rs1325276892 |
683 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 688 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5050193 rs774656141 |
689 | G>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1316051 rs759783962 CA5050194 |
689 | G>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA373408358 rs1165963552 |
692 | W>C | No |
ClinGen TOPMed |
|
|
CA373408337 rs1348851165 |
696 | V>L | No |
ClinGen gnomAD |
|
|
rs1410144906 CA373408332 |
697 | A>T | No |
ClinGen gnomAD |
|
|
rs773344585 CA373408317 |
699 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs773344585 CA5050189 |
699 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs989227836 CA192758937 |
700 | V>D | No |
ClinGen TOPMed |
|
|
CA5050188 rs769850454 |
700 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781075917 CA5050186 |
703 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 704 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373408263 rs1483562952 |
708 | A>T | No |
ClinGen gnomAD |
|
|
CA373408258 rs1255867783 |
708 | A>V | No |
ClinGen gnomAD |
|
|
CA373408255 rs1199145364 |
709 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 709 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373408257 rs1199145364 |
709 | Q>K | No |
ClinGen gnomAD |
|
|
CA373408222 rs1238340656 |
713 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1290397198 CA373408203 COSM3745994 COSM3745992 |
715 | F>L | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs757918567 CA5050182 |
720 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA5050183 rs146034295 |
720 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764892022 CA5050180 |
721 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373408125 rs1413568646 |
727 | E>D | No |
ClinGen gnomAD |
|
|
rs1455141621 CA373408127 |
727 | E>G | No |
ClinGen gnomAD |
|
|
COSM1739527 COSM1739526 COSM1739525 CA5050162 rs371005897 |
734 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 737 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373407688 rs376719778 |
738 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5050160 rs376719778 |
738 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1451116338 CA373407657 |
739 | D>E | No |
ClinGen gnomAD |
|
|
CA373407644 rs1474314247 |
740 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 742 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA192758786 rs947546049 |
742 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM3433127 COSM3433130 COSM3433129 CA373407589 rs1273621765 |
743 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA373407559 rs1298244623 |
745 | Q>* | No |
ClinGen gnomAD |
|
|
CA5050155 rs763269505 |
746 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 746 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5050154 rs202031683 |
747 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs62637647 CA5050152 |
747 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs62637647 CA5050153 |
747 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1405562846 CA373407482 |
750 | M>T | No |
ClinGen gnomAD |
|
|
rs568813842 CA192758750 |
753 | Q>H | No |
ClinGen Ensembl |
|
|
CA192758724 rs938749085 |
757 | Q>R | No |
ClinGen TOPMed |
|
|
CA5050150 rs768775425 |
758 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1477715994 CA373404637 |
762 | A>V | No |
ClinGen gnomAD |
|
|
rs760579817 CA5050148 |
765 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452391576 CA373404576 |
766 | G>E | No |
ClinGen gnomAD |
|
|
CA192758718 rs916407293 |
766 | G>R | No |
ClinGen Ensembl |
|
|
COSM3367708 CA5050147 COSM3367707 rs775468187 COSM3367705 |
767 | E>G | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5050146 rs772024917 |
768 | G>E | No |
ClinGen ExAC |
|
|
rs1202677319 CA373404550 |
768 | G>R | No |
ClinGen gnomAD |
|
|
rs770645171 CA5050143 |
770 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972531833 CA192758501 |
772 | V>L | No |
ClinGen TOPMed |
|
|
rs1588003747 CA373404166 |
776 | Q>L | No |
ClinGen Ensembl |
|
|
CA373404145 rs1008414642 |
777 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA373404136 rs777387371 |
777 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1008414642 CA192758497 |
777 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373404157 rs1235620037 |
777 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748939597 CA5050121 |
778 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA373404129 rs1324881421 |
778 | V>L | No |
ClinGen TOPMed |
|
|
CA5050120 rs772886623 |
779 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5050119 rs144531146 |
780 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5050118 rs562375787 |
780 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5050117 rs780552477 |
781 | A>D | No |
ClinGen ExAC |
|
|
CA5050115 rs746367894 |
784 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757588425 CA5050113 |
785 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5050114 COSM1624963 COSM1624962 rs199765267 COSM1624961 |
785 | I>V | liver breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1261754868 CA373403925 |
787 | E>G | No |
ClinGen TOPMed |
|
|
rs756161551 CA5050110 |
790 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA192758452 rs200544152 |
790 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs752759752 CA5050109 |
791 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs767703677 CA5050108 |
791 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192758411 rs898668285 |
795 | G>R | No |
ClinGen Ensembl |
|
|
rs1254917597 CA373403715 |
796 | G>E | No |
ClinGen TOPMed |
|
|
CA373403693 rs1588003405 |
797 | A>D | No |
ClinGen Ensembl |
|
|
CA373403687 rs1193138650 |
798 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 800 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000760764 CA5050105 rs774411642 |
805 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1464964854 CA373403570 |
805 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA373403557 rs1264441689 |
806 | P>A | No |
ClinGen gnomAD |
|
|
CA5050104 rs766315448 |
806 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1323182132 CA373403540 |
807 | H>R | No |
ClinGen gnomAD |
|
|
rs772758704 CA5050102 |
811 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA373403445 rs1280929541 |
813 | S>C | No |
ClinGen Ensembl |
|
|
CA373403398 rs1162703934 |
816 | Q>P | No |
ClinGen gnomAD |
|
|
CA373403379 rs1362779042 |
817 | S>Y | No |
ClinGen gnomAD |
|
|
CA373403331 rs1473732069 |
820 | V>I | No |
ClinGen gnomAD |
|
|
rs1428872551 CA373403274 |
824 | V>M | No |
ClinGen gnomAD |
|
|
CA5050099 rs776190100 |
826 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5050096 rs779354356 |
827 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5050097 rs746421010 CA373403231 |
827 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 830 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5050093 rs777863053 |
833 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA373403188 rs1246997929 |
834 | Q>E | No |
ClinGen gnomAD |
|
|
CA373401979 rs1161820297 |
837 | L>V | No |
ClinGen gnomAD |
|
|
rs1426952808 COSM226217 CA373401950 |
838 | T>I | NS [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA192758061 rs892032709 |
846 | E>K | No |
ClinGen TOPMed |
|
|
rs1451240781 CA373401569 |
850 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs377732636 CA5050040 |
851 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 851 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs191410452 CA5050038 |
852 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758931760 CA5050039 |
852 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226036451 CA373401488 |
854 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1012890540 CA192758047 |
860 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA373401289 rs1366621392 |
863 | P>L | No |
ClinGen gnomAD |
|
|
CA192758040 rs369511568 |
866 | Y>F | No |
ClinGen ESP |
|
|
CA373401228 rs1307852281 |
866 | Y>H | No |
ClinGen gnomAD |
|
|
rs1422345756 CA373401131 |
869 | Q>H | No |
ClinGen gnomAD |
|
|
rs1347178549 CA373401121 |
870 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs772222858 CA5050031 |
871 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs778915506 CA5050029 |
872 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA373401050 rs1250765787 |
872 | F>L | No |
ClinGen gnomAD |
|
|
rs757252849 CA5050028 |
873 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1439484283 CA373400964 |
878 | M>V | No |
ClinGen gnomAD |
|
|
rs749211700 CA5050027 |
879 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA373400867 rs1349548362 |
884 | W>* | No |
ClinGen gnomAD |
|
|
CA373400874 rs1223717282 |
884 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 885 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373400838 rs1563954457 |
886 | M>T | No |
ClinGen Ensembl |
|
|
rs918460586 CA373400820 |
887 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs918460586 CA192758018 |
887 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs377440003 CA192758013 |
888 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1194525298 CA373400680 |
897 | K>R | No |
ClinGen gnomAD |
|
|
rs1258390920 CA373400668 |
898 | A>S | No |
ClinGen TOPMed |
|
|
rs912331543 CA373400626 |
901 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs912331543 CA192758008 |
901 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs765980132 CA5050020 |
905 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs765980132 CA5050021 |
905 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5050018 rs762468037 |
906 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764591465 CA5050016 |
907 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA5050014 rs760907481 |
910 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192757993 rs1042641766 |
911 | T>A | No |
ClinGen Ensembl |
|
|
rs775795359 CA5050013 |
913 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1222375019 CA373400540 |
914 | M>I | No |
ClinGen gnomAD |
|
|
CA5050011 rs746098964 |
914 | M>T | No |
ClinGen ExAC |
|
|
CA5050012 rs772120225 |
914 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs143456960 CA5050010 |
915 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373400531 rs1280547348 |
916 | G>R | No |
ClinGen gnomAD |
|
|
rs750690503 CA5050009 |
917 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750690503 CA192757944 |
917 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373400495 rs1338772700 |
921 | M>T | No |
ClinGen gnomAD |
|
|
rs199632050 CA5050007 |
927 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
1 associated diseases with Q9HCG7
[MIM: 614409]: Spastic paraplegia 46, autosomal recessive (SPG46)
A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. {ECO:0000269|PubMed:23332916, ECO:0000269|PubMed:23332917, ECO:0000269|PubMed:24252062, ECO:0000269|PubMed:26220345, ECO:0000269|PubMed:30308956}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. {ECO:0000269|PubMed:23332916, ECO:0000269|PubMed:23332917, ECO:0000269|PubMed:24252062, ECO:0000269|PubMed:26220345, ECO:0000269|PubMed:30308956}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 3.2.1.45 | Glycosidases, ie enzymes hydrolyzing O- and S-glycosyl compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extrinsic component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| extrinsic component of Golgi membrane | The component of a Golgi membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| extrinsic component of membrane | The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| 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. |
| smooth endoplasmic reticulum | The smooth endoplasmic reticulum (smooth ER or SER) has no ribosomes attached to it. The smooth ER is the recipient of the proteins synthesized in the rough ER. Those proteins to be exported are passed to the Golgi complex, the resident proteins are returned to the rough ER and the lysosomal proteins after phosphorylation of their mannose residues are passed to the lysosomes. Glycosylation of the glycoproteins also continues. The smooth ER is the site of synthesis of lipids, including the phospholipids. The membranes of the smooth ER also contain enzymes that catalyze a series of reactions to detoxify both lipid-soluble drugs and harmful products of metabolism. Large quantities of certain compounds such as phenobarbital cause an increase in the amount of the smooth ER. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| beta-glucosidase activity | Catalysis of the hydrolysis of terminal, non-reducing beta-D-glucose residues with release of beta-D-glucose. |
| galactosylceramidase activity | Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine. |
| glucosylceramidase activity | Catalysis of the reaction: D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine. |
| glucosyltransferase activity | Catalysis of the transfer of a glucosyl group to an acceptor molecule, typically another carbohydrate or a lipid. |
| steryl-beta-glucosidase activity | Catalysis of the reaction: cholesteryl-beta-D-glucoside + H(2)O = D-glucose + cholesterol. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| bile acid metabolic process | The chemical reactions and pathways involving bile acids, a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine. |
| carbohydrate metabolic process | The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. |
| central nervous system development | The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. |
| central nervous system neuron development | The process whose specific outcome is the progression of a neuron whose cell body is located in the central nervous system, from initial commitment of the cell to a neuronal fate, to the fully functional differentiated neuron. |
| cholesterol metabolic process | The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. |
| glucosylceramide catabolic process | The chemical reactions and pathways resulting in the breakdown of glucosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of glucose by a ceramide group. |
| glycoside catabolic process | The chemical reactions and pathways resulting in the breakdown of glycosides, compounds in which a glycosyl group is substituted into a hydroxyl, thiol or selenol group in another compound. |
| glycosphingolipid metabolic process | The chemical reactions and pathways involving glycosphingolipids, any compound with residues of sphingoid and at least one monosaccharide. |
| lipid glycosylation | Covalent attachment of a glycosyl residue to a lipid molecule. |
| regulation of actin filament polymerization | Any process that modulates the frequency, rate or extent of the assembly of actin filaments by the addition of actin monomers to a filament. |
| regulation of membrane lipid distribution | Any process that modulates the proportions or spatial arrangement of lipids in a cellular membrane. |
| regulation of microtubule polymerization | Any process that modulates the frequency, rate or extent of microtubule polymerization. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGTQDPGNMG | TGVPASEQIS | CAKEDPQVYC | PEETGGTKDV | QVTDCKSPED | SRPPKETDCC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NPEDSGQLMV | SYEGKAMGYQ | VPPFGWRICL | AHEFTEKRKP | FQANNVSLSN | MIKHIGMGLR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YLQWWYRKTH | VEKKTPFIDM | INSVPLRQIY | GCPLGGIGGG | TITRGWRGQF | CRWQLNPGMY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QHRTVIADQF | TVCLRREGQT | VYQQVLSLER | PSVLRSWNWG | LCGYFAFYHA | LYPRAWTVYQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LPGQNVTLTC | RQITPILPHD | YQDSSLPVGV | FVWDVENEGD | EALDVSIMFS | MRNGLGGGDD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| APGGLWNEPF | CLERSGETVR | GLLLHHPTLP | NPYTMAVAAR | VTAATTVTHI | TAFDPDSTGQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QVWQDLLQDG | QLDSPTGQST | PTQKGVGIAG | AVCVSSKLRP | RGQCRLEFSL | AWDMPRIMFG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AKGQVHYRRY | TRFFGQDGDA | APALSHYALC | RYAEWEERIS | AWQSPVLDDR | SLPAWYKSAL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FNELYFLADG | GTVWLEVLED | SLPEELGRNM | CHLRPTLRDY | GRFGYLEGQE | YRMYNTYDVH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FYASFALIML | WPKLELSLQY | DMALATLRED | LTRRRYLMSG | VMAPVKRRNV | IPHDIGDPDD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EPWLRVNAYL | IHDTADWKDL | NLKFVLQVYR | DYYLTGDQNF | LKDMWPVCLA | VMESEMKFDK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DHDGLIENGG | YADQTYDGWV | TTGPSAYCGG | LWLAAVAVMV | QMAALCGAQD | IQDKFSSILS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RGQEAYERLL | WNGRYYNYDS | SSRPQSRSVM | SDQCAGQWFL | KACGLGEGDT | EVFPTQHVVR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ALQTIFELNV | QAFAGGAMGA | VNGMQPHGVP | DKSSVQSDEV | WVGVVYGLAA | TMIQEGLTWE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GFQTAEGCYR | TVWERLGLAF | QTPEAYCQQR | VFRSLAYMRP | LSIWAMQLAL | QQQQHKKASW |
| 910 | 920 | ||||
| PKVKQGTGLR | TGPMFGPKEA | MANLSPE |