P51659
PR
Gene name |
HSD17B4 |
Protein name |
Peroxisomal multifunctional enzyme type 2 |
Names |
MFE-2, 17-beta-hydroxysteroid dehydrogenase 4, 17-beta-HSD 4, D-bifunctional protein, DBP, Multifunctional protein 2, MFP-2, Short chain dehydrogenase/reductase family 8C member 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3295 |
EC number |
1.1.1.n12: With NAD(+) or NADP(+) as acceptor |
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
8 structures for P51659
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1IKT | X-ray | 175 A | A | 618-736 | PDB |
| 1S9C | X-ray | 300 A | A/B/C/D/E/F/G/H/I/J/K/L | 318-615 | PDB |
| 1ZBQ | X-ray | 271 A | A/B/C/D/E/F | 1-304 | PDB |
| 6Z1W | X-ray | 248 A | A | 618-736 | PDB |
| 6Z1X | X-ray | 209 A | A | 618-736 | PDB |
| 8AF2 | X-ray | 251 A | A/B | 618-736 | PDB |
| 8AF3 | X-ray | 152 A | A | 618-736 | PDB |
| AF-P51659-F1 | Predicted | AlphaFoldDB |
676 variants for P51659
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000490425 rs1085307072 |
1 | M>I | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065701 rs1488399880 |
1 | M>L | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001823151 RCV001273793 rs142889209 RCV000600063 RCV002529294 RCV002529295 CA3381583 |
4 | P>R | Bifunctional peroxisomal enzyme deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001197145 RCV002512888 RCV000008094 CA118960 VAR_037576 RCV000415821 rs137853096 RCV000779455 RCV000688945 |
16 | G>S | Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency HSD17B4-Related Disorders Perrault syndrome DBPD; no dehydrogenase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000411032 RCV001861399 CA3381653 rs765702241 RCV002523882 |
23 | R>* | Bifunctional peroxisomal enzyme deficiency Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000614923 RCV000734981 CA3381664 rs747214551 RCV002529309 RCV001273974 |
37 | V>I | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000342721 RCV000283002 CA3381703 rs141517981 |
54 | A>D | Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375339818 RCV000177063 CA243164 RCV002516725 |
59 | V>I | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000669463 rs1554062119 |
61 | E>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001337531 rs1294462098 |
64 | R>S | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554062124 RCV000673018 RCV001855589 CA360864516 |
72 | N>K | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001868950 RCV000730097 rs769358132 CA3381733 RCV001155863 RCV001153267 |
77 | E>G | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001861740 rs1276397342 RCV000665075 |
90 | F>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs28943588 RCV000398894 CA3381737 RCV000308214 VAR_052309 RCV002520293 |
90 | F>L | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs544455125 RCV000595472 RCV001834901 CA3381742 RCV001242510 |
93 | I>T | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1057516672 RCV000410199 RCV000676074 RCV001861374 |
99 | N>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360864901 RCV002532141 RCV000673049 RCV001861817 rs1554062352 |
100 | A>S | Bifunctional peroxisomal enzyme deficiency Perrault syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000362861 RCV000179310 VAR_014872 RCV001517001 CA203225 RCV000391832 rs25640 RCV000676075 |
106 | R>H | Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs25640 VAR_065906 RCV000008096 CA118962 |
106 | R>P | Bifunctional peroxisomal enzyme deficiency DBPD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001155865 RCV001155864 rs1748692405 |
130 | V>M | Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000733584 CA3381820 RCV001861793 rs773305477 RCV000670514 |
132 | R>W | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_052310 RCV000309262 RCV000711976 RCV001084537 rs28943589 RCV000368516 CA3381825 RCV000221723 |
140 | K>N | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs775832137 RCV000008098 |
142 | K>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3381867 RCV001772352 rs771009588 RCV001157565 RCV001157566 |
161 | Q>P | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000671924 CA360866247 rs1554062814 |
175 | A>T | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3381877 rs372914814 RCV001303689 RCV001830200 |
189 | C>S | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000992170 RCV001274460 CA360866353 rs1397379413 |
191 | T>A | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000410593 rs1057516310 |
203 | T>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002535087 rs1017610439 CA125873749 RCV000728700 |
210 | V>M | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3381920 rs552078818 RCV000220416 RCV001273795 |
215 | P>S | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001157569 RCV001859026 CA360866908 RCV001157570 rs552078818 RCV001772353 |
215 | P>T | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA129040 RCV002513181 VAR_065907 rs387906825 RCV000023152 |
217 | Y>C | Perrault syndrome 1 Perrault syndrome Perrault syndrome 1 (prlts1) PRLTS1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA360866944 rs1554064092 RCV000675010 |
221 | L>F | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1749881286 RCV001330482 |
225 | L>F | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000410752 rs1057516750 |
237 | F>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000259721 CA10622272 rs886059821 RCV000354487 |
240 | G>R | Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16040964 RCV000815715 rs969485098 RCV000409273 RCV001840499 |
248 | R>C | Bifunctional peroxisomal enzyme deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001856978 rs748057401 RCV002282178 RCV000493335 CA3381977 RCV000671323 |
248 | R>H | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3381979 RCV002554855 RCV001092769 rs773024366 |
251 | R>Q | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs771780974 RCV001855620 CA3381978 RCV000676077 |
251 | R>W | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002535246 rs768345875 RCV000731931 CA3381981 |
256 | I>V | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1561457987 RCV000780347 |
263 | P>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002557282 CA3381984 RCV001152102 RCV001152103 rs149283499 |
264 | M>V | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000730900 rs543710228 RCV002520294 RCV000319617 CA3381989 RCV000374018 |
271 | A>T | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001316582 rs779675068 CA3381991 |
272 | N>T | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs368744809 RCV002518408 CA052835 |
273 | W>C | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1750354958 RCV001153371 RCV001153370 |
282 | A>P | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516269 CA16040965 RCV000410643 |
291 | S>* | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000265653 rs1143650 RCV000223502 RCV000224881 VAR_024625 CA3382033 RCV000320748 RCV001084093 |
292 | T>S | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3382040 RCV000598487 rs200867795 RCV002532599 |
311 | N>S | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000599590 RCV001250093 rs758055753 RCV001387755 RCV000984186 |
312 | H>* | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3382043 RCV000379976 RCV000285195 rs373503389 RCV002520295 |
315 | R>C | Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000344886 RCV001083539 RCV000731627 rs150326995 CA3382045 RCV000222427 RCV000380697 RCV000765793 |
317 | T>M | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3382072 RCV001155978 rs370579120 RCV001155979 RCV000731048 RCV001061408 RCV002536458 |
332 | L>F | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001048998 rs143750360 |
334 | P>S | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138560200 RCV002536531 RCV000735036 CA3382078 |
353 | A>V | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs757346346 CA3382087 RCV001825623 RCV000811657 |
364 | I>V | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000729881 rs137946207 RCV002060984 CA3382095 |
380 | I>V | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1750958514 RCV001067576 |
383 | Q>* | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000730332 RCV001825459 CA360868242 RCV001326111 rs1368714235 |
385 | S>Y | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000893427 CA3382105 rs576803491 RCV001273797 |
398 | S>P | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs780430704 CA3382108 RCV002536494 RCV000733272 |
402 | A>T | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000626126 RCV002529777 rs746616691 CA3382134 RCV002483757 RCV001860472 RCV001157690 |
405 | L>F | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001860217 RCV000596756 CA3382167 rs139500402 |
421 | G>E | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16040967 RCV000412021 rs1057516735 |
423 | L>* | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000734721 RCV001312383 CA3382171 rs780820166 RCV002535390 |
426 | E>D | Bifunctional peroxisomal enzyme deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_052311 CA3382172 RCV001083581 RCV000506112 RCV000727234 rs28943590 |
427 | A>V | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA360868551 rs1282621174 RCV000731812 RCV001855667 |
430 | A>D | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1057517045 RCV000409513 RCV002488840 |
434 | D>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001273798 RCV000729746 CA3382181 rs201767875 RCV001085833 |
443 | M>L | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3382206 RCV001211600 rs768553274 |
446 | Y>F | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001059831 rs1751933402 |
451 | K>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372898042 RCV001037722 RCV000311123 RCV000401151 CA3382212 |
453 | L>F | Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001387756 CA3382214 rs137853097 RCV000410433 |
457 | N>D | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs137853097 CA118961 RCV000477799 RCV000008095 RCV000385297 RCV000684773 RCV001002204 VAR_065908 |
457 | N>Y | Bifunctional peroxisomal enzyme deficiency DBPD; the mutation leads to an unstable protein [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1751942272 RCV001254892 |
472 | K>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000730852 RCV001370270 RCV001825463 CA125891842 rs901553037 |
473 | R>Q | Bifunctional peroxisomal enzyme deficiency Variant assessed as Somatic; 4.621e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000238819 CA3382222 RCV002487109 RCV000351976 RCV000733383 RCV000390048 rs201455193 RCV002518512 RCV000819185 |
473 | R>W | Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001208330 rs1751944228 |
475 | S>* | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000409302 rs1057516859 |
481 | A>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001833205 RCV000216767 CA3382275 rs376158204 |
484 | I>M | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3382274 RCV001853413 RCV000217040 rs775297352 |
484 | I>V | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000175136 RCV000353669 RCV001084433 VAR_052312 rs28943591 CA201313 RCV000509557 RCV000224951 RCV000298832 |
491 | A>T | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002260650 RCV001220352 RCV000590157 rs766199971 RCV002530904 RCV000763126 CA3382299 |
506 | R>C | Bifunctional peroxisomal enzyme deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1554068136 CA360869059 RCV000670512 |
506 | R>H | Bifunctional peroxisomal enzyme deficiency Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001314566 rs191468413 CA3382301 RCV000414223 |
510 | D>N | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3382302 RCV000299859 RCV000214252 RCV000263505 rs11539471 RCV001517002 VAR_014873 RCV000676082 |
511 | W>R | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000675096 rs587777444 RCV000125467 CA163185 |
513 | P>L | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Variant assessed as Somatic; impact. Perrault syndrome 1 (prlts1) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1753477498 RCV001251043 |
515 | H>R | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000672665 RCV003144135 rs587777443 CA163183 RCV001849905 RCV000125466 RCV000825530 |
516 | I>T | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Perrault syndrome 1 (prlts1) Rare genetic deafness [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3382306 RCV001835260 RCV001246239 rs757297524 |
518 | P>S | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000906457 CA3382309 RCV000264639 RCV000217919 rs184492796 RCV001580473 RCV000359350 |
522 | S>R | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA360869193 rs1554068261 RCV000668019 |
525 | G>V | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1561485663 RCV000706195 |
526 | F>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554068269 CA360869222 RCV000668914 |
529 | P>L | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA360869241 rs1554068272 RCV000664831 |
532 | H>R | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000728776 rs546653967 CA3382341 RCV001458298 |
542 | R>K | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002523497 RCV000270907 RCV002244837 CA3382344 RCV000326000 RCV003155169 rs201009485 RCV001298354 |
543 | R>H | Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 (prlts1) Inborn genetic diseases [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA163187 RCV000730879 RCV000125468 RCV001849906 rs201009485 |
543 | R>P | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Perrault syndrome 1 (prlts1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000802983 RCV000410124 rs1057517323 |
545 | L>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221117 rs1753560558 |
554 | S>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215117 CA3382345 RCV001833876 rs199659543 |
554 | S>P | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002529316 CA125854233 rs561555159 RCV000604969 RCV001829704 |
555 | R>G | Bifunctional peroxisomal enzyme deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001835757 RCV000658286 CA3382347 rs73790880 RCV001079376 |
557 | K>M | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000221678 RCV000676084 RCV001517003 VAR_014874 CA3382348 rs11205 RCV000385277 RCV000290935 |
559 | I>V | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002532637 CA3382364 RCV000595870 rs35281104 RCV002532638 |
562 | R>H | Bifunctional peroxisomal enzyme deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3382370 rs763390035 RCV001274462 RCV002537001 RCV000795475 |
567 | V>A | Bifunctional peroxisomal enzyme deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001556667 RCV002538095 CA125855311 rs1038744864 RCV000811384 RCV001260323 RCV000023153 |
568 | Y>* | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 Perrault syndrome Perrault syndrome 1 (prlts1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001053495 rs1057516936 RCV000410138 |
573 | L>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001387832 rs1554068426 RCV000670247 |
583 | R>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001243241 rs142527052 CA3382379 RCV001536361 |
589 | K>N | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs778265488 RCV002506453 RCV001860249 RCV000601251 RCV000729571 RCV001834928 CA3382446 |
620 | G>R | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1057516312 RCV000409725 |
636 | K>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3382466 RCV001157791 RCV001157790 rs368915056 |
645 | K>T | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1057517152 RCV000411080 |
646 | V>missing | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3382478 RCV000756251 RCV002533784 rs752858179 RCV001835947 RCV003155302 |
664 | W>C | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3382498 RCV000805184 RCV001784241 RCV000666888 rs751646311 |
677 | Q>* | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA360871988 RCV001152311 RCV001157792 rs1456658488 |
678 | G>D | Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3382500 rs139348491 RCV000730276 RCV002535148 |
681 | K>E | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002494555 VAR_052314 CA3382504 RCV000301707 rs28943592 RCV000966445 RCV000361158 RCV000218324 RCV001079319 |
687 | T>I | Perrault syndrome 1 Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3382508 rs771510541 RCV000671728 RCV001644761 |
706 | Q>* | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1554070146 RCV000672090 |
711 | S>* | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs149776885 CA3382532 RCV002543564 RCV001310858 |
713 | R>K | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3382536 rs145728297 RCV002518987 RCV002227469 RCV000401079 |
726 | L>V | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3382539 RCV000676087 rs28943594 RCV000221985 RCV000268330 RCV000307098 VAR_052315 RCV001082359 |
728 | M>V | Bifunctional peroxisomal enzyme deficiency Perrault syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1755036404 RCV001332424 |
736 | L>H | Bifunctional peroxisomal enzyme deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360861586 rs1192300477 |
2 | G>A | No |
ClinGen gnomAD |
|
|
CA917566664 rs1561419677 |
2 | G>V | No |
ClinGen Ensembl |
|
|
CA3381584 rs142889209 |
4 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360861607 rs1240164226 |
4 | P>S | No |
ClinGen gnomAD |
|
|
rs1158314495 CA360861619 |
5 | L>R | No |
ClinGen gnomAD |
|
|
rs1406012759 CA360861627 |
6 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA360861629 rs1406012759 |
6 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA125915283 rs746540197 |
9 | G>R | No |
ClinGen gnomAD |
|
|
CA360861670 rs746540197 |
9 | G>W | No |
ClinGen gnomAD |
|
|
rs1338970262 CA360861707 |
12 | V>A | No |
ClinGen gnomAD |
|
|
rs1561419761 RCV000732016 CA360861710 |
13 | L>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1249647574 CA360861713 |
13 | L>Q | No |
ClinGen Ensembl |
|
|
CA3381588 rs764378958 |
14 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1332217802 CA360861729 |
15 | T>I | No |
ClinGen TOPMed |
|
|
rs1278618444 CA360861733 |
16 | G>A | No |
ClinGen gnomAD |
|
|
CA125915322 rs137853096 |
16 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1244855468 CA360861737 |
17 | A>G | No |
ClinGen TOPMed |
|
|
rs750954413 CA3381591 |
17 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs148363262 CA501230 RCV000215788 |
19 | A>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA360861748 rs1304273072 |
19 | A>S | No |
ClinGen TOPMed |
|
|
rs148363262 CA125915371 |
19 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA052590 rs794729224 |
22 | G>C | No |
ClinGen gnomAD |
|
|
rs765702241 CA3381652 |
23 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3381655 rs762613990 |
23 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3381654 rs762613990 |
23 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3381656 rs751186437 |
26 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751186437 CA360859923 |
26 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034994864 CA125846655 |
28 | A>G | No |
ClinGen TOPMed |
|
|
rs780598694 CA3381658 |
29 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3381657 rs373805649 |
29 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1188838605 CA360859963 |
31 | E>K | No |
ClinGen TOPMed |
|
|
CA125846659 rs192005316 |
32 | R>G | No |
ClinGen 1000Genomes |
|
|
CA3381661 rs780129984 |
33 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs749921409 CA3381659 CA3381660 |
33 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA163180 rs587777442 |
34 | A>V | Perrault syndrome 1 (prlts1) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA360859991 rs1235253926 |
35 | L>V | No |
ClinGen TOPMed |
|
|
CA360860000 rs1210011520 |
36 | V>I | No |
ClinGen TOPMed |
|
|
rs1274306053 CA360864306 |
39 | N>S | No |
ClinGen gnomAD |
|
|
rs34959311 CA125857490 |
40 | D>N | No |
ClinGen Ensembl |
|
|
rs200063597 CA125857517 |
44 | D>V | No |
ClinGen Ensembl |
|
|
CA125857531 rs936572362 |
46 | K>R | No |
ClinGen Ensembl |
|
|
CA360864388 rs566990969 |
51 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3381700 rs566990969 |
51 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3381704 rs141517981 |
54 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3381701 rs758207228 |
54 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3381702 rs141517981 |
54 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3381705 rs780149071 |
55 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3381706 rs769101245 |
61 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA3381707 rs535274592 |
61 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360864446 rs1580546068 |
61 | E>Q | No |
ClinGen Ensembl |
|
|
rs748540970 CA3381709 |
62 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773665790 CA3381711 |
63 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA360864462 rs1476913555 |
64 | R>G | No |
ClinGen TOPMed |
|
|
CA125857652 rs1010037552 |
64 | R>T | No |
ClinGen TOPMed |
|
|
rs760431947 CA3381712 |
65 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs906652588 CA125857677 |
71 | A>T | No |
ClinGen Ensembl |
|
|
CA3381714 rs776049285 |
72 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA360864521 rs1205465184 |
73 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA125857713 rs1033649515 |
74 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3381732 rs759044030 |
76 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1026521515 CA125858066 |
81 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA125858074 rs986960425 |
81 | K>M | No |
ClinGen TOPMed |
|
|
CA360864593 rs1430638401 |
82 | V>A | No |
ClinGen gnomAD |
|
|
CA3381734 rs774812185 |
82 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs762920317 CA3381735 |
86 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs763999607 CA360864630 |
88 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125858107 rs1009112781 |
88 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1325676674 CA360864633 |
89 | A>P | No |
ClinGen TOPMed |
|
|
CA3381738 rs150907852 |
90 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140143128 CA3381739 |
91 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360864644 rs1561440976 RCV000730610 |
91 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA360864649 rs1432696314 |
92 | R>G | No |
ClinGen TOPMed |
|
|
CA3381740 rs754108630 |
92 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754108630 CA3381741 |
92 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3381764 rs752125216 |
97 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561442127 CA360864883 |
98 | N>H | No |
ClinGen Ensembl |
|
|
CA360864889 rs1393411490 |
98 | N>K | No |
ClinGen gnomAD |
|
|
CA360864886 rs1392361503 |
98 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs886042726 RCV000324685 CA10604611 CA360864905 |
101 | G>R | No |
ClinGen gnomAD ClinVar dbSNP |
|
|
CA360864935 rs1319422849 |
104 | R>K | No |
ClinGen gnomAD |
|
|
CA125859292 rs965210507 |
104 | R>S | No |
ClinGen TOPMed |
|
|
rs202240780 CA3381787 |
106 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3381788 rs754589251 |
110 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3381790 rs543076437 |
112 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1748532789 RCV001092767 |
116 | W>R | No |
ClinVar dbSNP |
|
|
CA3381808 rs200667890 |
117 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360865025 rs1337008217 |
117 | D>H | No |
ClinGen gnomAD |
|
|
CA360865038 rs1447689394 |
117 | D>V | No |
ClinGen gnomAD |
|
|
CA3381810 rs139427751 |
118 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3381811 rs777276125 |
119 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA360865049 rs777276125 |
119 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA360865058 rs1357197735 |
120 | H>R | No |
ClinGen gnomAD |
|
|
CA360865062 rs1455328824 |
121 | R>G | No |
ClinGen gnomAD |
|
|
rs1289348143 CA360865066 |
121 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA236235 rs786205574 RCV000171384 |
123 | H>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3381812 rs746940622 |
124 | L>W | No |
ClinGen ExAC gnomAD |
|
|
RCV000728631 CA3381814 rs781172854 |
125 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA3381813 rs149916677 |
125 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3381816 rs769066826 |
126 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558989003 CA3381819 |
129 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000414209 rs1044762772 CA16042569 |
133 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs766852679 CA360865218 |
134 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766852679 CA3381822 |
134 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360865231 rs1189674166 |
135 | W>* | No |
ClinGen gnomAD |
|
|
CA360865224 rs1580557550 |
135 | W>R | No |
ClinGen Ensembl |
|
|
rs1188304655 CA360865240 |
136 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs759885252 CA3381824 |
138 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA360865273 rs759885252 |
138 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs752303191 CA3381827 |
141 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3381829 rs376804180 |
143 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1204079596 CA360866067 |
147 | I>S | No |
ClinGen gnomAD |
|
|
rs1273711073 CA360866074 |
148 | M>I | No |
ClinGen gnomAD |
|
|
rs765174171 CA125861912 |
148 | M>V | No |
ClinGen Ensembl |
|
|
CA360866087 rs1272178425 |
150 | S>* | No |
ClinGen Ensembl |
|
|
CA360866154 rs1383798931 |
160 | G>A | No |
ClinGen gnomAD |
|
|
RCV001092768 rs747162503 CA3381866 |
161 | Q>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1167534373 CA360866172 |
163 | N>S | No |
ClinGen gnomAD |
|
|
rs1258550930 CA360866180 |
164 | Y>C | No |
ClinGen TOPMed |
|
|
CA360866209 rs1202368985 |
168 | K>R | No |
ClinGen TOPMed |
|
|
CA360866212 rs1337577753 |
169 | L>M | No |
ClinGen TOPMed |
|
|
CA125861980 rs1038445943 |
172 | L>Q | No |
ClinGen TOPMed |
|
|
RCV000171385 rs775766910 CA236237 |
176 | N>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs775766910 CA3381871 |
176 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA360866254 rs1226630841 |
176 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1307944675 CA360866267 |
178 | L>F | No |
ClinGen TOPMed |
|
|
CA3381872 rs763363391 |
179 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272060835 CA360866281 |
180 | I>T | No |
ClinGen gnomAD |
|
|
CA360866277 rs1412766896 |
180 | I>V | No |
ClinGen TOPMed |
|
|
CA3381873 rs764299947 |
184 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs956947896 CA125862041 |
184 | K>R | No |
ClinGen Ensembl |
|
|
CA3381875 rs199755823 |
186 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000723176 rs1339819940 CA360866320 |
186 | N>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1339819940 CA360866322 |
186 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767169728 CA3381876 |
188 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3381878 rs372914814 |
189 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766330442 CA3381879 |
190 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs753646023 CA3381880 |
192 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754803105 CA3381881 |
193 | A>D | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA125862120 rs897274090 |
193 | A>T | No |
ClinGen TOPMed |
|
|
rs1475432031 CA360866379 |
195 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs550705310 CA3381883 |
196 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360866400 rs142141053 |
199 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3381886 rs142141053 |
199 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3381885 rs781288160 |
199 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3381888 rs776060692 CA360866408 |
200 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320815482 CA360866404 |
200 | M>V | No |
ClinGen gnomAD |
|
|
CA3381889 rs749700774 |
202 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3381890 rs749700774 |
202 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3381891 rs774818626 |
203 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1405401069 CA360866427 |
204 | V>I | No |
ClinGen gnomAD |
|
|
CA3381892 rs761601392 |
205 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275273236 CA360866443 |
206 | P>S | No |
ClinGen gnomAD |
|
|
rs759555234 CA3381918 |
209 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA360866877 rs1017610439 |
210 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1031657115 CA125873763 |
217 | Y>D | No |
ClinGen Ensembl |
|
|
CA360866924 rs387906825 RCV000732613 |
217 | Y>F | Perrault syndrome 1 (prlts1) [Ensembl] | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs1580593253 CA360866931 |
218 | V>A | No |
ClinGen Ensembl |
|
|
CA125873764 rs750665868 |
220 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750665868 CA3381923 |
220 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3381925 rs780224937 |
222 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs748602892 CA3381928 |
224 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA3381927 rs779562627 |
224 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1002348026 CA125873797 |
227 | H>Y | No |
ClinGen TOPMed |
|
|
CA360866993 rs770456299 |
228 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3381931 rs746702458 |
228 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360866988 rs746702458 |
228 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202348286 CA360866999 |
229 | S>T | No |
ClinGen TOPMed |
|
|
rs917423439 CA125873847 |
232 | E>K | No |
ClinGen Ensembl |
|
|
CA360867042 rs1306748755 |
235 | G>S | No |
ClinGen TOPMed |
|
|
CA125873882 rs35065909 |
237 | F>L | No |
ClinGen Ensembl |
|
|
CA3381934 rs375449166 |
237 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3381952 rs780702825 |
241 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA360867145 CA3381976 rs144141837 |
247 | L>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1190472952 CA360867153 |
249 | W>R | No |
ClinGen gnomAD |
|
|
rs759881921 CA3381980 |
252 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA360867174 rs1159774894 |
252 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA125877598 rs902729157 |
257 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763121959 CA3381983 |
261 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs984796709 CA125877620 |
262 | H>R | No |
ClinGen TOPMed |
|
|
rs1352677854 CA360867238 |
262 | H>Y | No |
ClinGen gnomAD |
|
|
CA360867247 rs1421588911 |
263 | P>L | No |
ClinGen TOPMed |
|
|
CA360867258 rs1434797374 |
265 | T>A | No |
ClinGen TOPMed |
|
|
rs146555135 CA3381985 |
266 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360867265 rs1377952475 |
266 | P>L | No |
ClinGen TOPMed |
|
|
CA3381987 rs146555135 |
266 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146555135 CA3381986 |
266 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360867269 rs1235139153 |
267 | E>A | No |
ClinGen gnomAD |
|
|
RCV000729201 rs1561458037 CA360867279 |
268 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1457255569 CA360867284 |
269 | V>D | No |
ClinGen gnomAD |
|
|
rs1290675070 CA360867286 |
270 | K>E | No |
ClinGen gnomAD |
|
|
CA3381990 rs755820270 |
271 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA360867295 rs543710228 |
271 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360867297 rs755820270 |
271 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA360867308 rs1291377611 |
273 | W>* | No |
ClinGen Ensembl |
|
|
CA360867317 rs1471328019 |
274 | K>R | No |
ClinGen gnomAD |
|
|
rs1422918656 CA360867346 |
278 | D>H | No |
ClinGen gnomAD |
|
|
rs1162207835 CA360867353 |
279 | F>L | No |
ClinGen gnomAD |
|
|
rs529126653 CA3381994 |
280 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA125877652 rs755644876 |
282 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs755644876 CA3381995 |
282 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3381996 rs373488428 |
283 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360867406 rs1369315663 |
286 | Q>H | No |
ClinGen gnomAD |
|
|
CA125877656 rs1023709508 |
286 | Q>R | No |
ClinGen TOPMed |
|
|
CA3381997 rs376651301 |
287 | S>N | No |
ClinGen ESP ExAC TOPMed |
|
|
CA360867417 rs933517207 |
288 | I>S | No |
ClinGen gnomAD |
|
|
rs933517207 CA125877675 |
288 | I>T | No |
ClinGen gnomAD |
|
|
RCV000729259 CA3381998 rs549278500 |
288 | I>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA360867427 rs1277024567 |
290 | E>K | No |
ClinGen TOPMed |
|
|
rs1240743591 CA360867642 |
293 | G>V | No |
ClinGen gnomAD |
|
|
CA125880106 rs1034430828 |
295 | I>K | No |
ClinGen Ensembl |
|
|
CA3382036 rs752217768 |
298 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA360867678 rs1265148467 |
299 | L>V | No |
ClinGen TOPMed |
|
|
CA3382037 rs757932947 |
300 | S>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000722781 rs1561460929 |
301 | K>* | No |
ClinVar dbSNP |
|
|
CA125880140 rs958986994 |
304 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA360867737 rs1350586752 |
308 | V>I | No |
ClinGen gnomAD |
|
|
CA3382039 rs763640733 |
309 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs974081530 CA125880164 |
312 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3382042 rs138766214 |
313 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA125880192 rs878863609 |
315 | R>H | No |
ClinGen gnomAD |
|
|
rs878863609 CA360867784 |
315 | R>L | No |
ClinGen gnomAD |
|
|
rs1472548132 CA360867803 |
319 | T>A | No |
ClinGen gnomAD |
|
|
rs1179816892 CA360867806 |
319 | T>I | No |
ClinGen gnomAD |
|
|
rs772158410 CA3382048 |
320 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA3382049 rs773233283 |
321 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA360867859 rs771498011 RCV000733273 |
326 | G>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs771498011 CA3382070 |
326 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1376413472 CA360867856 |
326 | G>R | No |
ClinGen TOPMed |
|
|
CA3382071 rs781725829 |
328 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA360867876 rs1225907629 |
329 | G>D | No |
ClinGen gnomAD |
|
|
CA3382073 rs770219479 |
333 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3382075 rs143750360 |
334 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372782834 CA125882628 |
335 | F>Y | No |
ClinGen ESP TOPMed |
|
|
CA360867919 rs1466460910 |
336 | S>A | No |
ClinGen gnomAD |
|
|
rs1263701221 CA360867920 |
336 | S>Y | No |
ClinGen TOPMed |
|
|
rs202103850 CA125882630 |
338 | A>S | No |
ClinGen 1000Genomes |
|
|
rs1189423952 CA360867935 |
338 | A>V | No |
ClinGen gnomAD |
|
|
CA802778399 rs1198545531 |
339 | Y>* | No |
ClinGen TOPMed |
|
|
rs201568834 CA3382076 |
340 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360867972 rs1427639013 |
344 | A>P | No |
ClinGen gnomAD |
|
|
CA3382077 rs774071914 |
345 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs984925372 CA125882661 |
346 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA360867986 rs1379364772 |
346 | M>T | No |
ClinGen gnomAD |
|
|
rs1175147740 CA360868001 |
348 | A>D | No |
ClinGen gnomAD |
|
|
rs1216389008 CA360868006 |
349 | L>F | No |
ClinGen gnomAD |
|
|
rs201340722 CA360868039 |
355 | I>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs201340722 CA125882694 |
355 | I>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA3382081 rs760487512 |
356 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3382080 rs750393834 |
356 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs753550454 CA3382083 |
357 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3382082 rs147324213 |
357 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758681224 CA3382084 |
358 | P>L | No |
ClinGen ExAC |
|
|
CA360868063 rs1261386976 |
359 | K>E | No |
ClinGen gnomAD |
|
|
rs1561463473 CA360868089 |
362 | K>I | No |
ClinGen Ensembl |
|
|
rs1561463509 CA360868118 |
366 | E>A | No |
ClinGen Ensembl |
|
|
CA360868117 rs1580624148 |
366 | E>K | No |
ClinGen Ensembl |
|
|
CA3382088 RCV000730749 rs781084978 |
369 | S>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs773950921 CA125882786 |
370 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1198548214 CA360868161 |
372 | S>F | No |
ClinGen gnomAD |
|
|
rs770170048 CA3382090 |
372 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1750955154 RCV001195491 |
376 | T>A | No |
ClinVar dbSNP |
|
|
CA360868201 rs1561463583 RCV000722265 |
378 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000730630 CA125882818 rs1006852881 |
378 | G>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA360868199 rs1561463583 |
378 | G>V | No |
ClinGen Ensembl |
|
|
CA3382096 rs137946207 |
380 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360868209 rs1347527224 |
380 | I>N | No |
ClinGen gnomAD |
|
|
rs772562744 CA125882828 |
381 | I>M | No |
ClinGen ExAC TOPMed |
|
|
CA125882829 rs972447861 RCV000676079 |
382 | G>D | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA125882846 rs999344431 |
383 | Q>R | No |
ClinGen Ensembl |
|
|
CA3382099 rs766217022 |
386 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs141606543 CA3382098 |
386 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753737021 CA3382100 |
387 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1195992361 CA360868254 |
387 | M>L | No |
ClinGen TOPMed |
|
|
rs1366620030 CA360868263 |
388 | G>D | No |
ClinGen gnomAD |
|
|
CA360868261 rs1229157896 |
388 | G>R | No |
ClinGen gnomAD |
|
|
rs759333360 CA3382101 |
389 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA125882900 rs1031523207 |
391 | L>I | No |
ClinGen Ensembl |
|
|
rs371801135 CA125882917 |
394 | I>T | No |
ClinGen Ensembl |
|
|
rs764956942 CA3382102 |
394 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360868303 rs1224007984 |
395 | P>S | No |
ClinGen gnomAD |
|
|
rs757432456 CA3382104 |
396 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3382106 rs374161061 |
400 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA360868347 rs780430704 |
402 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406583130 CA360868352 |
403 | K>E | No |
ClinGen gnomAD |
|
|
CA360868374 rs1312702831 |
404 | V>D | No |
ClinGen gnomAD |
|
|
rs1450696986 CA360868373 |
404 | V>F | No |
ClinGen gnomAD |
|
|
rs746616691 CA3382135 |
405 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745847164 CA3382137 |
406 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA3382138 rs745847164 |
406 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3382136 rs371585154 |
406 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360868389 rs1211686069 |
407 | G>E | No |
ClinGen gnomAD |
|
|
rs762659459 CA3382140 |
408 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3382142 rs773326927 |
411 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3382144 rs766602899 |
412 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1481330101 CA360868426 |
412 | E>G | No |
ClinGen TOPMed |
|
|
rs150536709 CA3382145 |
413 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360868435 rs1418072786 |
414 | Y>H | No |
ClinGen gnomAD |
|
|
rs1047356437 CA125885218 |
418 | P>S | No |
ClinGen gnomAD |
|
|
rs1176944513 CA360868477 |
420 | A>E | No |
ClinGen gnomAD |
|
|
CA3382170 rs751930586 |
422 | K>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3382169 rs751930586 |
422 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057516735 CA360868506 |
423 | L>S | No |
ClinGen Ensembl |
|
|
rs866717654 CA125889763 |
425 | C>Y | No |
ClinGen Ensembl |
|
|
rs1561469945 CA360868533 |
427 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1282621174 CA360868552 |
430 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA360868555 rs1561469976 |
431 | D>H | No |
ClinGen Ensembl |
|
|
CA10604340 rs886042516 RCV000297535 |
434 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3382173 rs755642241 |
436 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3382174 rs564688224 |
437 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs564688224 CA360868596 |
437 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3382177 rs778626762 |
438 | G>D | No |
ClinGen ExAC |
|
|
rs768612138 CA3382176 |
438 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469841100 CA360868603 |
439 | V>I | No |
ClinGen gnomAD |
|
|
rs1405530330 CA360868608 |
440 | V>M | No |
ClinGen gnomAD |
|
|
rs1402992616 CA360868639 |
444 | D>G | No |
ClinGen gnomAD |
|
|
rs1364957049 CA360868638 |
444 | D>Y | No |
ClinGen gnomAD |
|
|
CA125891705 rs768553274 |
446 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA125891700 rs960323137 |
446 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs774944118 CA3382207 |
447 | S>T | No |
ClinGen ExAC |
|
|
rs1242332648 CA360868695 |
451 | K>E | No |
ClinGen gnomAD |
|
|
rs773542757 CA3382210 |
451 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs760375484 CA3382211 |
452 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753362442 CA3382213 |
454 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360868713 rs1461413550 |
454 | I>L | No |
ClinGen gnomAD |
|
|
rs753362442 CA360868716 |
454 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299779192 CA360868722 |
455 | C>Y | No |
ClinGen TOPMed |
|
|
CA3382215 rs752715729 |
457 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA360868746 rs1437799470 |
458 | Q>H | No |
ClinGen gnomAD |
|
|
CA360868759 rs1225847202 |
460 | S>F | No |
ClinGen gnomAD |
|
|
rs1326398916 CA360868756 |
460 | S>T | No |
ClinGen gnomAD |
|
|
rs777764011 CA3382217 |
461 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA125891817 rs1048665309 |
462 | F>L | No |
ClinGen Ensembl |
|
|
CA360868775 rs1324320950 |
463 | L>V | No |
ClinGen gnomAD |
|
|
CA125891825 rs947536442 |
466 | S>C | No |
ClinGen TOPMed |
|
|
CA3382220 rs138860802 |
468 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3382219 rs138860802 |
468 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1190005522 CA360868823 |
471 | G>R | No |
ClinGen TOPMed |
|
|
rs552177197 CA3382221 |
472 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360868842 rs1351858591 |
474 | T>I | No |
ClinGen TOPMed |
|
|
CA3382224 rs748703722 |
476 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3382226 rs772553851 |
478 | V>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000734519 CA360868864 rs772553851 |
478 | V>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA360868873 rs1318841272 |
479 | K>R | No |
ClinGen TOPMed |
|
|
CA3382269 rs747593673 |
481 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3382270 rs771322917 |
482 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3382272 rs538929226 |
483 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360868913 rs1481425721 |
484 | I>T | No |
ClinGen gnomAD |
|
|
rs1405712253 CA360868917 |
485 | P>S | No |
ClinGen gnomAD |
|
|
CA360868921 rs1468399937 |
486 | N>D | No |
ClinGen gnomAD |
|
|
CA360868925 rs1022971680 |
486 | N>I | No |
ClinGen TOPMed |
|
|
rs1022971680 CA125896370 |
486 | N>S | No |
ClinGen TOPMed |
|
|
rs773711119 CA3382277 |
488 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs932961732 CA125896371 |
488 | P>S | No |
ClinGen TOPMed |
|
|
rs1338324022 CA360868943 |
489 | P>L | No |
ClinGen gnomAD |
|
|
CA3382278 rs761868163 |
489 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773130893 CA3382280 |
490 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3382279 rs767352678 |
490 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs28943591 CA360868951 |
491 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1239954997 CA360868962 |
493 | L>V | No |
ClinGen TOPMed |
|
|
rs1286819719 CA360868971 |
494 | T>R | No |
ClinGen gnomAD |
|
|
rs755720085 CA3382282 |
495 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215297835 CA360868974 |
495 | D>H | No |
ClinGen TOPMed |
|
|
CA3382283 rs752946061 |
496 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758591104 CA3382284 |
498 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758591104 CA360868995 |
498 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919403730 CA125853367 |
508 | S>N | No |
ClinGen TOPMed |
|
|
CA3382304 rs764300456 |
513 | P>T | No |
ClinGen ExAC |
|
|
CA360869108 rs1157834864 |
514 | L>I | No |
ClinGen gnomAD |
|
|
rs751742258 CA3382305 |
515 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA125853391 rs201400560 |
515 | H>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1403155030 CA360869154 |
520 | F>L | No |
ClinGen gnomAD |
|
|
rs1489041382 CA360869156 |
521 | A>T | No |
ClinGen TOPMed |
|
|
rs750926446 CA3382308 |
521 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA125853436 rs910573226 |
523 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs779292674 CA3382332 |
526 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1255189279 CA3382333 |
527 | D>E | No |
ClinGen gnomAD |
|
|
CA360869203 rs1204103959 |
527 | D>H | No |
ClinGen gnomAD |
|
|
CA360869217 rs1561485692 RCV000723257 |
529 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3382335 rs752329901 |
530 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1167898093 CA360869278 |
537 | F>L | No |
ClinGen gnomAD |
|
|
RCV000676083 rs1554068277 CA360869282 |
538 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3382339 rs770365591 |
540 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs781124964 CA3382340 |
541 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000998418 rs775326908 CA3382343 |
543 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs775326908 CA360869309 |
543 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360869353 rs1174227649 |
549 | A>E | No |
ClinGen TOPMed |
|
|
CA125854200 rs149141475 |
553 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3382346 rs760850787 |
554 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125854249 rs142249213 |
555 | R>I | No |
ClinGen ESP |
|
|
CA125854251 rs73790880 |
557 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201966018 CA3382362 |
561 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773590308 CA3382363 |
562 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35281104 CA125855269 |
562 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776827357 CA360869459 |
564 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771172384 CA3382365 |
564 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776827357 CA3382366 |
564 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3382367 rs760017440 |
565 | K>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000303201 rs886043708 |
566 | P>missing | No |
ClinVar dbSNP |
|
|
rs1183044213 CA360869471 |
566 | P>L | No |
ClinGen gnomAD |
|
|
CA3382368 rs372613079 |
566 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3382369 rs775795599 |
567 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3382371 rs764392899 |
569 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360869484 rs764392899 |
569 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1488197968 CA360869495 |
571 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1561486912 CA360869498 |
571 | Q>R | No |
ClinGen Ensembl |
|
|
rs535087010 CA125855345 |
573 | L>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs535087010 CA125855343 |
573 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1375792756 CA360869513 |
574 | Q>E | No |
ClinGen gnomAD |
|
|
CA360869524 rs1269109703 |
575 | T>S | No |
ClinGen gnomAD |
|
|
CA3382375 rs749942200 |
577 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA360869535 rs1449368417 |
577 | M>L | No |
ClinGen gnomAD |
|
|
rs1454951939 CA360869543 |
578 | W>* | No |
ClinGen TOPMed |
|
|
CA3382376 rs755509150 |
578 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA360869597 rs1360066465 |
585 | H>R | No |
ClinGen gnomAD |
|
|
rs1397144144 CA360869594 |
585 | H>Y | No |
ClinGen TOPMed |
|
|
CA360869608 rs1220244346 |
586 | F>L | No |
ClinGen gnomAD |
|
|
CA360869610 rs138507337 |
587 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138507337 CA3382377 |
587 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360869631 rs1481423075 |
589 | K>E | No |
ClinGen gnomAD |
|
|
rs749126747 CA3382378 |
589 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3382400 rs778907771 |
590 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA3382402 rs758202102 |
593 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1219172624 CA360870219 |
596 | I>V | No |
ClinGen TOPMed |
|
|
rs760476837 CA3382406 |
602 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125858156 rs376159810 |
602 | Y>H | No |
ClinGen Ensembl |
|
|
CA3382407 rs749858537 |
604 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125858181 rs749858537 |
604 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360870347 rs1580707197 |
606 | A>G | No |
ClinGen Ensembl |
|
|
CA360870344 rs15228 VAR_052313 |
606 | A>S | No |
ClinGen UniProt dbSNP gnomAD |
|
|
CA3382409 rs774766165 |
607 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762176769 CA3382410 |
608 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA3382412 rs772944749 |
609 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772370750 CA3382411 |
609 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3382413 rs760213706 |
610 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125858198 rs371117702 |
610 | G>R | No |
ClinGen TOPMed |
|
|
rs760213706 CA360870390 |
610 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753272521 CA3382415 |
614 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA360870443 rs1173685826 |
615 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1307897626 CA360870447 |
615 | T>I | No |
ClinGen Ensembl |
|
|
CA360870444 rs1173685826 |
615 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs747337076 CA3382447 |
621 | K>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000727875 rs34407657 CA3382448 |
622 | L>F | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3382449 rs776447480 |
623 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1580711130 CA360870940 |
624 | S>T | No |
ClinGen Ensembl |
|
|
CA360870947 rs1446593078 |
625 | T>A | No |
ClinGen gnomAD |
|
|
rs769469403 CA3382451 |
626 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360870963 rs1385683079 |
626 | F>V | No |
ClinGen gnomAD |
|
|
CA3382452 rs769469403 |
626 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360870976 rs1283704216 |
627 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA360871007 CA3382454 rs763937684 |
629 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs774280580 CA3382455 |
630 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs780185533 CA125859749 |
631 | I>V | No |
ClinGen Ensembl |
|
|
CA360871037 rs1457459853 |
632 | G>R | No |
ClinGen gnomAD |
|
|
CA3382456 rs761533599 |
632 | G>V | No |
ClinGen ExAC |
|
|
rs767299480 CA3382457 |
633 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3382458 rs754096002 |
633 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754096002 CA125859784 |
633 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3382460 rs201560431 |
634 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs752768656 CA3382461 |
634 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360871069 rs1471555268 |
635 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1423941265 CA360871079 |
636 | K>Q | No |
ClinGen gnomAD |
|
|
rs1392227934 CA360871099 |
637 | D>G | No |
ClinGen TOPMed |
|
|
rs149463020 CA3382463 |
638 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3382464 rs143853923 |
639 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs965172948 CA125859851 |
642 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA360871184 rs1456546499 |
644 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1334153615 CA360871190 |
644 | K>R | No |
ClinGen gnomAD |
|
|
rs925111361 CA360871236 |
647 | N>I | No |
ClinGen TOPMed |
|
|
rs925111361 CA125859864 |
647 | N>S | No |
ClinGen TOPMed |
|
|
rs1278901993 CA360871257 |
649 | V>L | No |
ClinGen gnomAD |
|
|
CA125859878 rs113689633 |
651 | E>G | No |
ClinGen Ensembl |
|
|
CA125859879 rs775211111 |
652 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA3382469 rs775211111 |
652 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1255926114 CA360871298 |
652 | W>G | No |
ClinGen gnomAD |
|
|
rs748755382 CA3382470 |
653 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360871356 rs1320593909 |
655 | T>I | No |
ClinGen TOPMed |
|
|
rs1440592692 CA360871353 |
655 | T>S | No |
ClinGen gnomAD |
|
|
rs768158153 CA3382471 |
656 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs141219265 CA3382473 |
657 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3382472 rs774183443 |
657 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772977871 CA3382475 |
658 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370202729 CA3382477 |
660 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360871451 rs1350556421 |
662 | A>D | No |
ClinGen TOPMed |
|
|
CA125859935 rs761960298 |
662 | A>S | No |
ClinGen Ensembl |
|
|
CA360871470 rs1400754119 |
664 | W>R | No |
ClinGen gnomAD |
|
|
rs1386378115 CA360871907 |
666 | I>V | No |
ClinGen gnomAD |
|
|
CA3382494 rs770662160 |
670 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242241178 CA360871944 |
671 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA360871949 rs1162719276 |
672 | S>A | No |
ClinGen TOPMed |
|
|
CA360871952 rs1309977227 |
672 | S>F | No |
ClinGen gnomAD |
|
|
rs1162719276 CA360871948 |
672 | S>P | No |
ClinGen TOPMed |
|
|
rs879556155 CA125865073 |
673 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA360871956 rs879556155 |
673 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA125865083 rs201962114 |
675 | V>A | No |
ClinGen gnomAD |
|
|
CA3382497 rs764128703 |
676 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1265727964 CA360871996 |
679 | P>L | No |
ClinGen gnomAD |
|
|
rs762298003 CA3382499 |
680 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3382501 rs750904466 |
681 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1438355565 CA360872013 |
682 | G>D | No |
ClinGen gnomAD |
|
|
CA125865139 rs142519904 |
684 | A>G | No |
ClinGen ESP TOPMed |
|
|
rs370987467 CA3382502 |
685 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA125865149 rs780532444 |
686 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780532444 CA3382503 |
686 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457597939 CA360872037 |
687 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA360872038 rs1457597939 |
687 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1316619210 CA360872044 |
688 | I>N | No |
ClinGen TOPMed |
|
|
CA360872049 rs1402710728 |
689 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3382505 rs754641735 |
690 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs754641735 CA360872056 |
690 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1376093459 CA360872073 |
692 | D>E | No |
ClinGen gnomAD |
|
|
CA360872068 rs1331765213 |
692 | D>Y | No |
ClinGen gnomAD |
|
|
RCV000762157 CA360872087 rs1561494635 |
694 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA125865159 rs903584102 |
695 | F>V | No |
ClinGen TOPMed |
|
|
CA125865178 rs201046375 |
696 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778352791 CA3382506 |
698 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388424538 CA360872157 |
701 | G>V | No |
ClinGen TOPMed |
|
|
rs1321740072 CA360872168 |
702 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1561494662 CA360872164 |
702 | K>Q | No |
ClinGen Ensembl |
|
|
rs1580723828 CA360872182 |
703 | L>P | No |
ClinGen Ensembl |
|
|
CA3382507 rs139609197 |
704 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541911825 CA3382531 |
709 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360872419 rs1400241609 |
709 | F>S | No |
ClinGen gnomAD |
|
|
rs1221343614 CA360872449 |
711 | S>N | No |
ClinGen gnomAD |
|
|
CA360872484 rs1272026396 |
714 | L>P | No |
ClinGen TOPMed |
|
|
CA3382533 rs748343419 |
714 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1209275907 CA360872491 |
715 | K>E | No |
ClinGen gnomAD |
|
|
rs1350948262 CA360872512 |
716 | A>G | No |
ClinGen Ensembl |
|
|
CA360872505 rs1288272188 |
716 | A>T | No |
ClinGen gnomAD |
|
|
rs1350948262 CA360872513 |
716 | A>V | No |
ClinGen Ensembl |
|
|
rs772325208 CA3382534 |
718 | G>W | No |
ClinGen ExAC |
|
|
CA360872538 rs746605455 |
719 | N>D | No |
ClinGen Ensembl |
|
|
CA125870146 rs746605455 |
719 | N>H | No |
ClinGen Ensembl |
|
|
rs773410311 CA3382535 |
720 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1424686401 CA360872570 |
721 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360872565 rs1479114791 |
721 | M>V | No |
ClinGen gnomAD |
|
|
rs1057519420 RCV000415947 |
727 | Q>missing | No |
ClinVar dbSNP |
|
|
RCV000415984 rs1057519212 |
727 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1168547933 CA360872648 |
727 | Q>E | No |
ClinGen gnomAD |
|
|
rs776945690 CA3382538 |
727 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs766910805 CA3382537 |
727 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs765476692 CA3382540 |
729 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765476692 CA125870159 |
729 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA125870160 rs61747105 |
732 | D>A | No |
ClinGen Ensembl |
|
|
rs758025692 CA3382542 |
733 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3382541 rs752388266 |
733 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA125870181 rs997436670 |
734 | A>D | No |
ClinGen Ensembl |
|
|
rs751064948 CA3382544 |
734 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360872756 rs751064948 |
734 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360872753 rs751064948 |
734 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA125870184 rs1049954328 |
735 | K>E | No |
ClinGen gnomAD |
2 associated diseases with P51659
[MIM: 261515]: D-bifunctional protein deficiency (DBPD)
Disorder of peroxisomal fatty acid beta-oxidation. {ECO:0000269|PubMed:10400999, ECO:0000269|PubMed:10671535, ECO:0000269|PubMed:11743515, ECO:0000269|PubMed:9482850}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 233400]: Perrault syndrome 1 (PRLTS1)
A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild intellectual disability and cerebellar and peripheral nervous system involvement. {ECO:0000269|PubMed:20673864}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Disorder of peroxisomal fatty acid beta-oxidation. {ECO:0000269|PubMed:10400999, ECO:0000269|PubMed:10671535, ECO:0000269|PubMed:11743515, ECO:0000269|PubMed:9482850}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild intellectual disability and cerebellar and peripheral nervous system involvement. {ECO:0000269|PubMed:20673864}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 1.1.1.n12 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| peroxisomal matrix | The volume contained within the membranes of a peroxisome; in many cells the matrix contains a crystalloid core largely composed of urate oxidase. |
| peroxisomal membrane | The lipid bilayer surrounding a peroxisome. |
| peroxisome | A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| (3R)-hydroxyacyl-CoA dehydrogenase (NAD) activity | Catalysis of the reaction: 3R-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH. |
| 17-beta-hydroxysteroid dehydrogenase (NAD+) activity | Catalysis of the reaction: a 17-beta-hydroxysteroid + NAD+ = a 17-oxosteroid + NADH + H+. |
| 3-hydroxyacyl-CoA dehydrogenase activity | Catalysis of the reaction: (S)-3-hydroxyacyl-CoA + NAD+ = 3-oxoacyl-CoA + NADH + H(+). |
| 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity | Catalysis of the reaction: (24R,25R)-3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestanoyl-CoA = (24E)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA + H2O. |
| enoyl-CoA hydratase activity | Catalysis of the reaction: (3S)-3-hydroxyacyl-CoA = trans-2-enoyl-CoA + H2O. |
| isomerase activity | Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. |
| long-chain-enoyl-CoA hydratase activity | Catalysis of the reaction: a long-chain (3S)-3-hydroxyacyl-CoA = a long-chain trans-2-enoyl-CoA + H2O. A long-chain acyl-CoA is an acyl-CoA thioester where the acyl chain contains 13 to 22 carbon atoms. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| androgen metabolic process | The chemical reactions and pathways involving androgens, C19 steroid hormones that can stimulate the development of male sexual characteristics. |
| estrogen metabolic process | The chemical reactions and pathways involving estrogens, C18 steroid hormones that can stimulate the development of female sexual characteristics. Also found in plants. |
| fatty acid beta-oxidation | A fatty acid oxidation process that results in the complete oxidation of a long-chain fatty acid. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and occurs by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively). |
| medium-chain fatty-acyl-CoA metabolic process | The chemical reactions and pathways involving medium-chain fatty-acyl-CoAs, any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a long-chain fatty-acyl group. A medium-chain fatty acid is a fatty acid with a chain length of between C6 and C12. |
| osteoblast differentiation | The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. |
| Sertoli cell development | The process whose specific outcome is the progression of a Sertoli cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a Sertoli cell fate. |
| very long-chain fatty acid metabolic process | The chemical reactions and pathways involving a fatty acid which has a chain length greater than C22. |
| very long-chain fatty-acyl-CoA metabolic process | The chemical reactions and pathways involving very long-chain fatty-acyl-CoAs, any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a medium-chain fatty-acyl group. A very long-chain fatty acid is a fatty acid which has a chain length greater than C22. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSPLRFDGR | VVLVTGAGAG | LGRAYALAFA | ERGALVVVND | LGGDFKGVGK | GSLAADKVVE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EIRRRGGKAV | ANYDSVEEGE | KVVKTALDAF | GRIDVVVNNA | GILRDRSFAR | ISDEDWDIIH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RVHLRGSFQV | TRAAWEHMKK | QKYGRIIMTS | SASGIYGNFG | QANYSAAKLG | LLGLANSLAI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EGRKSNIHCN | TIAPNAGSRM | TQTVMPEDLV | EALKPEYVAP | LVLWLCHESC | EENGGLFEVG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AGWIGKLRWE | RTLGAIVRQK | NHPMTPEAVK | ANWKKICDFE | NASKPQSIQE | STGSIIEVLS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KIDSEGGVSA | NHTSRATSTA | TSGFAGAIGQ | KLPPFSYAYT | ELEAIMYALG | VGASIKDPKD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LKFIYEGSSD | FSCLPTFGVI | IGQKSMMGGG | LAEIPGLSIN | FAKVLHGEQY | LELYKPLPRA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GKLKCEAVVA | DVLDKGSGVV | IIMDVYSYSE | KELICHNQFS | LFLVGSGGFG | GKRTSDKVKV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AVAIPNRPPD | AVLTDTTSLN | QAALYRLSGD | WNPLHIDPNF | ASLAGFDKPI | LHGLCTFGFS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ARRVLQQFAD | NDVSRFKAIK | ARFAKPVYPG | QTLQTEMWKE | GNRIHFQTKV | QETGDIVISN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AYVDLAPTSG | TSAKTPSEGG | KLQSTFVFEE | IGRRLKDIGP | EVVKKVNAVF | EWHITKGGNI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GAKWTIDLKS | GSGKVYQGPA | KGAADTTIIL | SDEDFMEVVL | GKLDPQKAFF | SGRLKARGNI |
| 730 | |||||
| MLSQKLQMIL | KDYAKL |