Q7L5A8
PR
Gene name |
FA2H |
Protein name |
Fatty acid 2-hydroxylase |
Names |
Fatty acid alpha-hydroxylase, Fatty acid hydroxylase domain-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79152 |
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 Q7L5A8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7L5A8-F1 | Predicted | AlphaFoldDB |
380 variants for Q7L5A8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1555542889 RCV000539908 |
1 | M>T | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396768548 RCV002532916 RCV000711622 rs1245153953 |
12 | S>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000811246 rs1597577820 CA396768517 |
17 | Q>R | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878855082 RCV000233207 |
25 | C>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1406286523 CA396768456 RCV001057856 |
27 | V>D | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001117374 CA16614992 rs978032580 RCV001848804 RCV000474966 |
32 | R>G | Hereditary spastic paraplegia Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs957683798 RCV000578281 CA283770055 |
34 | Y>* | Hereditary spastic paraplegia 35 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs121918217 RCV000001099 VAR_054893 CA251671 |
35 | D>Y | Hereditary spastic paraplegia 35 SPG35; patients present spastic paraparesis associated with leukodystrophy and dystonia [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001238724 rs1294196562 |
36 | L>V | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001854843 CA052525 rs794729215 CA396768381 |
39 | F>L | Variant assessed as Somatic; impact. Spastic paraplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000555976 rs915291720 RCV002265790 CA283770000 |
44 | P>Q | Neurodegeneration with brain iron accumulation Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA396768354 RCV003155224 rs1268722908 RCV000520744 |
44 | P>S | Hereditary spastic paraplegia 35 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000708595 CA396768351 rs1247665387 |
45 | G>W | Hereditary spastic paraplegia 35 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001337611 RCV001336096 rs1057518032 CA16043088 RCV000413571 |
47 | E>K | Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs759947457 RCV002513206 RCV002293414 RCV000023856 |
53 | R>missing | Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_064620 | 53 | R>del | SPG35; significantly reduced enzymatic function [UniProt] | Yes | UniProt |
|
RCV000989634 rs794729214 |
54 | A>missing | Hereditary spastic paraplegia 35 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001245364 rs1962974502 |
56 | Q>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001387013 rs794729214 |
57 | D>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs990027087 CA283769973 RCV000706495 |
58 | I>T | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001236135 rs1410690526 CA396768228 |
64 | G>R | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
RCV001724297 RCV001329950 RCV001373220 CA8170618 rs750198250 |
68 | R>G | Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs997310209 RCV000761510 CA283769920 |
69 | H>Q | Hereditary spastic paraplegia 35 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000529889 RCV000660639 rs1057519235 CA16043885 RCV000416271 |
69 | H>Y | Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000303256 RCV001848665 CA8170617 RCV001246003 RCV002222486 rs527421775 RCV001171919 RCV002522890 |
78 | E>K | Hereditary spastic paraplegia Hereditary spastic paraplegia 35 Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001117373 rs1962971114 RCV003117764 |
89 | Q>L | Hereditary spastic paraplegia 35 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000469053 RCV000117010 RCV001847684 RCV000398455 CA152809 VAR_037503 rs35874850 |
97 | P>A | Hereditary spastic paraplegia Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1962260707 RCV001227155 |
107 | D>N | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001848010 CA8170581 RCV000514460 RCV000419332 RCV001115913 rs147632811 COSM195853 RCV001084384 |
113 | R>Q | Hereditary spastic paraplegia Hereditary spastic paraplegia 35 large_intestine Spastic paraplegia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001115914 RCV000633072 RCV002524896 RCV001821170 rs141276237 RCV001848762 CA8170582 RCV001712218 |
113 | R>W | Hereditary spastic paraplegia Hereditary spastic paraplegia 35 Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886052291 CA10638356 RCV000342958 |
129 | P>S | Hereditary spastic paraplegia 35 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8170548 rs199659429 RCV000231608 |
134 | V>G | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001219004 rs1961980881 |
142 | D>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372350326 CA16615007 RCV000466731 RCV002248676 RCV000622305 |
148 | P>L | Variant assessed as Somatic; 0.0 impact. Spastic paraplegia Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA dbSNP gnomAD |
|
rs387907040 VAR_065245 RCV000483483 CA259930 RCV002513207 RCV000023857 |
154 | R>C | Hereditary spastic paraplegia 35 Spastic paraplegia SPG35 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA396770072 rs1204169977 RCV001035603 |
154 | R>H | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001220494 rs1204169977 CA396770070 |
154 | R>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000023858 CA259931 rs587776891 RCV002513208 |
170 | Y>* | Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224870 CA279015 RCV000199368 |
173 | P>S | Hereditary spastic paraplegia 35 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201500782 RCV001067394 CA8170494 |
177 | V>M | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002470808 rs765086319 RCV000190745 RCV001847847 CA204774 |
189 | R>* | Hereditary spastic paraplegia Hereditary spastic paraplegia 35 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001205551 RCV002249795 rs1463651673 CA16609640 COSM225045 RCV003223418 |
197 | R>* | Hereditary spastic paraplegia 35 skin Spastic paraplegia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA8170480 RCV000807623 rs771625273 |
197 | R>Q | Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001542494 rs372445274 CA8170450 RCV001859178 RCV001195534 |
207 | T>M | Hereditary spastic paraplegia Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1661729 RCV001391536 CA8170441 CA396769656 RCV000226521 RCV001848011 rs775750642 RCV001731541 |
217 | G>R | Hereditary spastic paraplegia Hereditary spastic paraplegia 35 Spastic paraplegia kidney [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000706323 rs1567633884 |
229 | I>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583427 RCV000522066 rs878855081 RCV000229293 RCV001848012 |
231 | Y>H | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001235649 rs1961773594 |
234 | H>P | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_064621 CA259927 rs387907039 RCV001797590 RCV000023855 RCV002509169 |
235 | R>C | Hereditary spastic paraplegia 35 Variant assessed as Somatic; 0.0 impact. SPG35; significantly reduced enzymatic function [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
CA260036 RCV000024321 rs387907172 |
236 | F>S | Hereditary spastic paraplegia 35 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000805135 rs367933620 CA8170427 |
240 | M>V | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001313033 CA8170415 RCV000660385 rs774693133 |
258 | G>S | Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8170413 RCV000414400 rs761645282 RCV001861420 |
261 | H>R | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001250165 rs1429546236 CA396769297 RCV001219726 RCV001819910 RCV002282488 |
269 | R>H | Neurodegeneration with brain iron accumulation Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs878855083 RCV000225829 |
274 | P>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199815871 RCV000383560 RCV001848663 RCV001080196 RCV000416009 CA8170371 RCV002307485 |
282 | G>S | Hereditary spastic paraplegia Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000840125 RCV000117011 CA152811 RCV000350126 RCV001085749 rs138244546 |
283 | V>I | Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001070389 rs573835278 |
298 | G>D | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000870724 rs202048141 CA8170355 RCV001847084 |
302 | A>V | Hereditary spastic paraplegia Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000786061 CA396769092 rs1567632441 |
304 | G>S | Hereditary spastic paraplegia 35 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8170349 RCV000633034 RCV001848887 RCV001310336 RCV000518709 rs150427439 |
309 | V>I | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA396769044 rs1274600570 RCV000786060 |
312 | D>Y | Hereditary spastic paraplegia 35 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001345650 RCV001780261 rs1961700181 |
314 | T>missing | Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8170345 RCV001644956 RCV001235650 RCV003155377 RCV002471051 rs373010581 |
322 | S>L | Spastic ataxia Hereditary spastic paraplegia 35 Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000995544 CA8170342 rs774131656 |
323 | P>L | Hereditary spastic paraplegia 35 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs995971156 RCV001303296 CA283758326 |
343 | H>R | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs948211737 CA283758327 RCV001242404 |
343 | H>Y | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002522889 CA8170331 RCV000261199 rs748697810 |
344 | Q>E | Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8170330 RCV000372851 rs779374650 |
344 | Q>H | Hereditary spastic paraplegia 35 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000633060 rs375479162 CA396768762 |
352 | T>I | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8170305 RCV001848662 rs200545714 RCV000262979 RCV002056508 RCV000863033 |
363 | T>P | Hereditary spastic paraplegia Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001203714 rs1961640625 |
368 | H>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000541410 CA8170303 rs141854925 RCV001848878 RCV000513492 RCV001117253 |
371 | T>M | Hereditary spastic paraplegia Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002068722 CA8170301 rs758814013 RCV000995543 RCV002550680 |
373 | Q>C | Hereditary spastic paraplegia 35 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1337944520 CA396768603 |
2 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1337944520 CA396768601 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA396768592 rs1272032670 |
4 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA283770176 rs951692119 |
5 | P>L | No |
ClinGen TOPMed |
|
|
CA283770178 rs951692119 |
5 | P>Q | No |
ClinGen TOPMed |
|
|
CA283770165 rs1018191043 |
6 | P>L | No |
ClinGen TOPMed |
|
|
CA8170632 rs773739894 |
6 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1962978331 RCV001289424 |
7 | P>L | No |
ClinVar dbSNP |
|
| TCGA novel | 7 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs12930201 CA283770148 |
9 | A>G | No |
ClinGen gnomAD |
|
|
CA283770153 rs890791998 |
9 | A>P | No |
ClinGen TOPMed |
|
|
CA396768566 rs12930201 |
9 | A>V | No |
ClinGen gnomAD |
|
|
rs12930196 CA283770137 |
10 | S>F | No |
ClinGen Ensembl |
|
|
CA283770120 rs982322157 |
11 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs993939257 CA283770118 |
12 | S>T | No |
ClinGen TOPMed |
|
|
CA396768542 rs1395004209 |
13 | P>L | No |
ClinGen gnomAD |
|
|
CA396768535 RCV000516871 rs1555542879 |
15 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA396768527 rs1192351415 |
16 | V>I | No |
ClinGen gnomAD |
|
|
rs763556766 CA8170631 |
19 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1246805290 CA396768504 |
19 | R>L | No |
ClinGen gnomAD |
|
|
rs970436944 CA283770111 |
22 | A>T | No |
ClinGen TOPMed |
|
|
rs1327873526 CA396768486 |
23 | G>R | No |
ClinGen gnomAD |
|
|
rs1597577795 RCV001008148 |
24 | A>missing | No |
ClinVar dbSNP |
|
|
rs762615677 CA8170630 |
24 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762615677 CA396768478 |
24 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775172785 CA8170629 |
28 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775172785 CA283770080 |
28 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550064357 CA8170628 |
29 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1300443742 CA396768443 |
30 | G>R | No |
ClinGen TOPMed |
|
|
rs978032580 CA396768431 |
32 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA396768428 rs1369764651 |
32 | R>L | No |
ClinGen gnomAD |
|
|
CA396768432 rs978032580 |
32 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1294196562 CA396768405 |
36 | L>I | No |
ClinGen gnomAD |
|
|
rs1441667867 CA396768402 |
36 | L>R | No |
ClinGen gnomAD |
|
|
rs1310159362 CA396768394 |
38 | S>G | No |
ClinGen gnomAD |
|
|
CA8170625 rs771357835 |
40 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435457299 CA396768375 |
41 | R>G | No |
ClinGen gnomAD |
|
|
rs747507656 CA283770003 |
41 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs747507656 CA8170624 |
41 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1187490570 CA396768361 |
43 | H>P | No |
ClinGen TOPMed |
|
|
CA396768353 rs915291720 |
44 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396768339 rs1057518032 |
47 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA396768332 rs1253521818 |
48 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA396768313 rs1205480989 |
51 | R>W | No |
ClinGen gnomAD |
|
|
rs1485211772 CA396768292 |
54 | A>G | No |
ClinGen gnomAD |
|
|
rs1485211772 CA396768291 |
54 | A>V | No |
ClinGen gnomAD |
|
|
CA396768290 rs1212063848 |
55 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8170622 rs533048648 |
60 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396768249 rs1223285087 |
61 | D>N | No |
ClinGen gnomAD |
|
|
rs1018243235 CA283769947 |
64 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1410690526 CA396768226 |
64 | G>W | No |
ClinGen gnomAD |
|
|
rs1360240159 CA396768213 |
66 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1467977455 CA396768215 |
66 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA396768206 rs1278265062 |
67 | H>L | No |
ClinGen gnomAD |
|
|
CA396768196 rs1057519235 |
69 | H>N | No |
ClinGen gnomAD |
|
|
CA396768186 rs1474677269 |
70 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1183364471 CA396768182 |
71 | A>D | No |
ClinGen gnomAD |
|
|
CA396768184 rs1255059436 |
71 | A>T | No |
ClinGen gnomAD |
|
|
rs1483492053 CA396768158 |
75 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA396768159 rs1483492053 |
75 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1260040689 CA396768145 |
76 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1225330805 CA396768148 |
76 | W>L | No |
ClinGen TOPMed |
|
|
CA283769914 CA396768108 rs942823747 |
82 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396768107 rs942823747 |
82 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA396768103 rs1355077270 |
83 | G>R | No |
ClinGen gnomAD |
|
|
rs1398152610 CA396768092 |
84 | E>G | No |
ClinGen gnomAD |
|
|
CA396768097 rs1310923819 |
84 | E>K | No |
ClinGen gnomAD |
|
|
rs1433561499 CA396768081 |
86 | R>C | No |
ClinGen gnomAD |
|
|
rs561760287 CA283769913 |
87 | G>W | No |
ClinGen 1000Genomes |
|
|
CA396768057 rs1296540790 |
89 | Q>H | No |
ClinGen TOPMed |
|
|
rs1400803879 CA396770501 |
91 | G>S | No |
ClinGen TOPMed |
|
|
CA396770494 rs1298958155 |
92 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8170588 rs761184809 |
94 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA283778156 rs267604636 |
94 | E>V | No |
ClinGen Ensembl |
|
|
CA8170587 rs773696633 |
95 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA396770471 rs1302771958 |
95 | N>S | No |
ClinGen gnomAD |
|
|
CA8170585 rs762343484 |
96 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1315869673 CA396770457 |
97 | P>L | No |
ClinGen gnomAD |
|
|
rs35874850 CA283778120 |
97 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8170584 rs768732810 |
98 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA396770450 rs1597556212 RCV000996343 |
99 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA396770397 rs1172884890 |
106 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396770391 rs1313672576 |
107 | D>G | No |
ClinGen TOPMed |
|
|
CA396770374 rs1402070038 |
110 | M>V | No |
ClinGen gnomAD |
|
|
CA396770366 rs1477020267 |
111 | E>K | No |
ClinGen gnomAD |
|
|
CA8170583 rs749305581 |
112 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250041931 CA396770341 |
115 | K>Q | No |
ClinGen gnomAD |
|
|
rs777488679 CA8170579 |
116 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA8170580 rs746868199 |
116 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA283778083 rs145990810 |
117 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8170577 rs145990810 |
117 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs929664399 CA283778073 |
118 | D>G | No |
ClinGen TOPMed |
|
|
CA396770300 rs1258347857 |
121 | K>E | No |
ClinGen gnomAD |
|
|
rs757737719 CA8170552 |
122 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162930526 CA396770277 |
122 | D>N | No |
ClinGen gnomAD |
|
|
rs764721748 CA8170550 |
125 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA283766938 rs936626466 |
125 | D>G | No |
ClinGen TOPMed |
|
|
CA396770246 rs1245607511 |
126 | W>C | No |
ClinGen gnomAD |
|
|
CA396770248 rs1464846983 |
126 | W>L | No |
ClinGen gnomAD |
|
|
rs1210045384 CA396770244 RCV001310337 |
127 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs867338122 CA283766928 |
127 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs986558962 CA283766909 |
132 | W>* | No |
ClinGen TOPMed |
|
|
CA283766898 rs199659429 |
134 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8170546 rs765264675 |
135 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 135 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771134202 CA8170543 |
136 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA8170542 rs761723049 |
136 | H>P | No |
ClinGen ExAC |
|
|
CA8170540 rs749140634 |
137 | L>F | No |
ClinGen ExAC |
|
|
rs773958471 CA8170541 |
137 | L>W | No |
ClinGen ExAC |
|
|
CA396770170 rs1567637539 |
139 | E>G | No |
ClinGen Ensembl |
|
|
CA8170537 rs769477853 |
142 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283766795 rs953982315 |
142 | D>G | No |
ClinGen TOPMed |
|
|
rs781059993 CA8170535 |
144 | W>G | No |
ClinGen ExAC |
|
|
rs751969460 CA8170533 |
145 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA8170534 rs751969460 |
145 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs201162733 CA8170530 |
146 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201162733 CA8170531 |
146 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396770098 rs1245653901 |
150 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8170527 rs753898846 |
151 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597546811 CA396770078 |
153 | I>T | No |
ClinGen Ensembl |
|
|
rs774231502 CA8170525 |
155 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs146060468 CA8170524 |
157 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1274343793 CA396770038 |
159 | D>E | No |
ClinGen gnomAD |
|
|
CA8170523 rs149561762 |
159 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149561762 CA283766701 |
159 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA283766699 rs138240770 |
160 | L>H | No |
ClinGen ESP |
|
|
CA396770036 rs1434512253 |
160 | L>I | No |
ClinGen gnomAD |
|
|
rs371859188 CA8170521 |
162 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8170520 rs745430083 |
163 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs770624203 CA8170518 |
164 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs770624203 CA8170519 |
164 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8170517 rs746605230 |
166 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs778226239 CA8170516 |
168 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA396769989 rs1450639920 |
168 | V>L | No |
ClinGen gnomAD |
|
|
CA396769958 rs1482825977 |
170 | Y>* | No |
ClinGen gnomAD |
|
|
CA396769957 rs1235656439 |
171 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 172 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA283765734 rs931131215 |
173 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1313960611 CA396769926 |
175 | I>M | No |
ClinGen gnomAD |
|
|
rs749744896 CA8170492 |
178 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA396769900 rs1392329896 |
180 | V>L | No |
ClinGen gnomAD |
|
|
CA396769901 rs1392329896 |
180 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1438025005 CA396769886 |
182 | Y>C | No |
ClinGen TOPMed |
|
|
rs757444137 CA8170487 |
184 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396769866 rs752546362 |
185 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396769862 rs1567636989 |
185 | W>C | No |
ClinGen Ensembl |
|
|
CA8170486 rs752546362 |
185 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs991788158 CA283765646 |
186 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8170485 rs370682047 |
189 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396769834 rs1423010539 |
190 | T>N | No |
ClinGen gnomAD |
|
|
CA396769799 rs1483551228 |
195 | N>S | No |
ClinGen gnomAD |
|
|
CA8170482 rs565757665 |
196 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8170481 rs565757665 |
196 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs139261750 CA8170479 |
200 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230476289 CA396769764 |
201 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749620420 CA8170477 |
203 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749620420 CA8170476 |
203 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA396769745 rs1320517670 |
205 | E>K | No |
ClinGen gnomAD |
|
|
rs1026526407 CA283760734 |
208 | V>M | No |
ClinGen gnomAD |
|
|
rs541338991 CA8170447 TCGA novel |
210 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC gnomAD NCI-TCGA |
|
rs1344911374 CA396769694 |
211 | P>L | No |
ClinGen gnomAD |
|
|
CA283760717 rs993592575 |
211 | P>S | No |
ClinGen Ensembl |
|
|
rs751056475 CA8170444 |
212 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396769689 rs759577964 |
212 | K>R | No |
ClinGen gnomAD |
|
|
CA283760712 rs759577964 |
212 | K>T | No |
ClinGen gnomAD |
|
|
CA396769673 CA396769672 rs1405183655 |
214 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA396769675 rs1302881668 |
214 | M>T | No |
ClinGen gnomAD |
|
|
rs1360442083 COSM973664 CA396769677 |
214 | M>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1349608524 CA396769667 |
215 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 216 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396769637 rs1171991918 |
220 | M>V | No |
ClinGen gnomAD |
|
|
CA8170438 rs376180814 |
224 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771564922 CA8170437 |
225 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285595223 CA396769597 |
226 | W>* | No |
ClinGen TOPMed |
|
|
rs1555537615 CA396769593 RCV000517814 |
226 | W>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs772449065 CA8170434 |
227 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218209354 CA396769582 |
228 | L>F | No |
ClinGen TOPMed |
|
|
CA396769575 rs1180435683 |
229 | I>T | No |
ClinGen gnomAD |
|
|
CA396769571 rs1251854904 |
230 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs778973971 CA396769536 |
234 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8170431 rs572112273 |
235 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8170429 rs781172621 |
236 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs757119964 CA8170428 |
237 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286114110 CA396769514 |
238 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA396769518 rs1597540618 |
238 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 239 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396769501 rs1336187254 |
240 | M>T | No |
ClinGen gnomAD |
|
|
CA8170425 rs758016356 |
242 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763544424 CA8170426 |
242 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA396769478 rs1377939035 |
244 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 244 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201126702 CA8170423 |
245 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8170422 rs760000001 |
247 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283760622 rs1054114951 |
249 | L>F | No |
ClinGen Ensembl |
|
|
CA396769436 rs1597540548 |
250 | I>L | No |
ClinGen Ensembl |
|
|
CA283760621 rs146684287 |
250 | I>M | No |
ClinGen ESP TOPMed |
|
|
rs1471329960 CA396769429 |
251 | M>L | No |
ClinGen gnomAD |
|
|
CA396769426 rs1295244386 |
251 | M>T | No |
ClinGen TOPMed |
|
|
rs1471329960 CA396769430 |
251 | M>V | No |
ClinGen gnomAD |
|
|
CA8170420 rs761217557 |
252 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567633804 CA396769410 |
253 | H>Q | No |
ClinGen Ensembl |
|
|
rs773459488 CA8170418 |
255 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772321218 CA8170417 |
256 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA8170414 rs768757432 |
258 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8170412 rs780906296 |
262 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs555874983 CA8170411 |
262 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396769329 rs1221857085 |
263 | A>E | No |
ClinGen gnomAD |
|
|
rs762169178 CA8170382 |
264 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8170381 rs149133141 |
265 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1230776326 CA396769315 |
266 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA396769311 rs1248024726 |
266 | D>V | No |
ClinGen TOPMed |
|
|
CA8170379 rs762987810 |
267 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396769306 rs1443602320 |
267 | G>V | No |
ClinGen gnomAD |
|
|
rs142644174 CA283758638 |
268 | S>F | No |
ClinGen ESP gnomAD |
|
|
rs1010615037 CA283758660 |
268 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA283758632 rs943671314 |
269 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA396769284 rs1471454218 |
271 | V>G | No |
ClinGen gnomAD |
|
|
rs1158038653 CA396769289 |
271 | V>I | No |
ClinGen gnomAD |
|
|
CA8170378 rs775735494 |
272 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396769277 rs1482897208 |
272 | F>L | No |
ClinGen gnomAD |
|
|
rs867086433 CA283758588 |
273 | P>L | No |
ClinGen gnomAD |
|
|
CA396769276 rs1235710043 |
273 | P>T | No |
ClinGen gnomAD |
|
|
CA8170376 rs373152103 |
274 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1263931890 CA396769268 |
274 | P>L | No |
ClinGen gnomAD |
|
|
CA8170377 rs373152103 |
274 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374386471 CA283758576 |
275 | V>A | No |
ClinGen Ensembl |
|
|
CA283758568 rs1052369680 |
277 | A>V | No |
ClinGen Ensembl |
|
|
rs1224736630 CA396769246 |
278 | S>F | No |
ClinGen gnomAD |
|
|
CA396769239 rs1313638702 |
280 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1313638702 CA396769240 |
280 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8170372 rs199815871 |
282 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199815871 CA396769227 |
282 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1355043152 CA396769203 |
285 | Y>* | No |
ClinGen TOPMed |
|
|
CA396769205 rs1472892105 |
285 | Y>F | No |
ClinGen gnomAD |
|
|
rs1411520354 CA396769192 |
287 | C>Y | No |
ClinGen gnomAD |
|
|
CA396769186 rs573296085 |
288 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764638921 CA8170364 |
288 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs764638921 CA396769185 |
288 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA8170365 rs573296085 |
288 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763075924 CA396769179 |
289 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA8170361 CA8170362 rs142533482 |
289 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8170363 rs763075924 |
289 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1249378470 CA396769170 |
290 | L>R | No |
ClinGen TOPMed |
|
|
rs772704885 CA8170359 |
292 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248808668 CA396769152 |
294 | E>K | No |
ClinGen gnomAD |
|
|
CA396769143 rs1180256587 |
295 | A>P | No |
ClinGen TOPMed |
|
|
CA8170358 rs761649745 |
295 | A>V | No |
ClinGen ExAC |
|
|
rs373270982 COSM1709392 CA283758482 |
296 | V>I | skin [Cosmic] | No |
ClinGen cosmic curated ESP gnomAD |
|
rs573835278 CA8170357 |
298 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1961702768 RCV001171918 |
299 | T>A | No |
ClinVar dbSNP |
|
|
CA396769118 rs1204200853 |
299 | T>I | No |
ClinGen gnomAD |
|
|
rs199908318 CA396769117 |
300 | V>L | No |
ClinGen gnomAD |
|
|
rs199908318 CA283758476 |
300 | V>M | No |
ClinGen gnomAD |
|
|
rs980968003 CA283758466 |
304 | G>A | No |
ClinGen TOPMed |
|
|
rs980968003 CA283758470 |
304 | G>V | No |
ClinGen TOPMed |
|
|
CA396769087 rs1187971810 |
305 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 305 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1520044 CA8170347 rs752782914 |
310 | L>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1274600570 CA396769045 |
312 | D>H | No |
ClinGen gnomAD |
|
|
rs1274600570 CA396769046 |
312 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200503137 CA283758417 |
315 | H>Y | No |
ClinGen 1000Genomes |
|
|
RCV001003615 rs1308764899 CA396769006 |
317 | Y>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1308764899 CA396769008 |
317 | Y>H | No |
ClinGen gnomAD |
|
|
rs1295765907 CA396769000 |
318 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA396768988 rs1293252892 |
319 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA396768966 rs774131656 |
323 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8170343 rs761580869 |
323 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs931541033 CA283758369 |
324 | H>R | No |
ClinGen TOPMed |
|
|
rs530329233 CA8170340 |
324 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775170242 CA8170339 |
325 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs139459274 CA283758359 |
326 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA283758349 rs768684986 |
330 | Y>* | No |
ClinGen Ensembl |
|
|
CA8170337 rs745359828 |
331 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359245337 CA396768920 |
331 | S>R | No |
ClinGen TOPMed |
|
|
CA8170336 rs755566191 |
331 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA396768909 rs1202000392 |
333 | K>Q | No |
ClinGen gnomAD |
|
|
rs770609938 CA8170335 |
336 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA396768887 rs770609938 |
336 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA8170333 rs778049749 |
337 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758924579 CA8170332 |
341 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs755111282 CA8170329 |
345 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183768911 CA396768786 |
349 | G>C | No |
ClinGen gnomAD |
|
|
CA396768779 rs1464145057 |
350 | I>V | No |
ClinGen gnomAD |
|
|
rs375479162 CA8170311 |
352 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396768735 rs1208591637 |
356 | D>H | No |
ClinGen gnomAD |
|
|
rs756322979 CA8170309 |
357 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1358996501 CA396768728 |
357 | Y>N | No |
ClinGen gnomAD |
|
|
CA396768719 rs1380616833 |
358 | C>S | No |
ClinGen gnomAD |
|
|
CA283757268 rs1042623584 |
359 | F>S | No |
ClinGen TOPMed |
|
|
rs781542407 CA8170307 |
360 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 361 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386143354 CA396768683 |
363 | T>I | No |
ClinGen gnomAD |
|
|
CA396768677 rs1423316562 |
364 | P>L | No |
ClinGen gnomAD |
|
|
CA396768678 rs1423316562 |
364 | P>R | No |
ClinGen gnomAD |
|
|
rs1163459308 CA396768680 |
364 | P>S | No |
ClinGen gnomAD |
|
|
rs150795488 CA283757243 |
365 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs765267806 CA8170304 |
366 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1239987258 CA396768662 |
367 | P>S | No |
ClinGen gnomAD |
|
|
CA396768660 rs1239987258 |
367 | P>T | No |
ClinGen gnomAD |
|
|
rs910812066 CA396768649 |
368 | H>Q | No |
ClinGen gnomAD |
|
|
rs1344870098 CA396768654 |
368 | H>Y | No |
ClinGen Ensembl |
|
|
CA396768647 rs1447325337 |
369 | L>V | No |
ClinGen gnomAD |
|
|
rs1280586445 CA396768626 |
372 | Q>R | No |
ClinGen TOPMed |
|
|
CA396768616 rs758814013 |
373 | Q>W | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q7L5A8
[MIM: 612319]: Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration (SPG35)
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. {ECO:0000269|PubMed:19068277, ECO:0000269|PubMed:20104589, ECO:0000269|PubMed:20853438}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. {ECO:0000269|PubMed:19068277, ECO:0000269|PubMed:20104589, ECO:0000269|PubMed:20853438}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| fatty acid alpha-hydroxylase activity | Catalysis of the conversion of a fatty acid to an alpha-hydroxylated fatty acid. A hydroxyl group is added to the second carbon, counted from the carboxyl end, of a fatty acid chain. |
| heme binding | Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring. |
| iron ion binding | Binding to an iron (Fe) ion. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| central nervous system myelin maintenance | The process in which the structure and material content of mature central nervous system myelin is kept in a functional state. |
| ceramide biosynthetic process | The chemical reactions and pathways resulting in the formation of ceramides, any N-acylated sphingoid. |
| establishment of skin barrier | Establishment of the epithelial barrier, the functional barrier in the skin that limits its permeability. |
| fatty acid biosynthetic process | The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. |
| fatty acid metabolic process | The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. |
| galactosylceramide biosynthetic process | The chemical reactions and pathways resulting in the formation of galactosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of galactose by a ceramide group. |
| glucosylceramide biosynthetic process | The chemical reactions and pathways resulting in the formation of glucosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of glucose by a ceramide group. |
| lipid modification | The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. |
| peripheral nervous system myelin maintenance | The process in which the structure and material content of mature peripheral nervous system myelin is kept in a functional state. |
| plasma membrane raft organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of plasma membrane rafts. |
| regulation of acinar cell proliferation | Any process that modulates the frequency, rate or extent of acinar cell proliferation. |
| regulation of hair cycle | Any process that modulates the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. |
| regulation of sebum secreting cell proliferation | Any process that modulates the frequency, rate or extent of sebum secreting cell proliferation. |
| sebaceous gland cell differentiation | The process in which a relatively unspecialized epidermal cell acquires the specialized features of a sebaceous gland cell. |
| sphingolipid biosynthetic process | The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPAPPPAAS | FSPSEVQRRL | AAGACWVRRG | ARLYDLSSFV | RHHPGGEQLL | RARAGQDISA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DLDGPPHRHS | ANARRWLEQY | YVGELRGEQQ | GSMENEPVAL | EETQKTDPAM | EPRFKVVDWD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KDLVDWRKPL | LWQVGHLGEK | YDEWVHQPVT | RPIRLFHSDL | IEGLSKTVWY | SVPIIWVPLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LYLSWSYYRT | FAQGNVRLFT | SFTTEYTVAV | PKSMFPGLFM | LGTFLWSLIE | YLIHRFLFHM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KPPSDSYYLI | MLHFVMHGQH | HKAPFDGSRL | VFPPVPASLV | IGVFYLCMQL | ILPEAVGGTV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FAGGLLGYVL | YDMTHYYLHF | GSPHKGSYLY | SLKAHHVKHH | FAHQKSGFGI | STKLWDYCFH |
| 370 | |||||
| TLTPEKPHLK | TQ |