RDH5
retinol dehydrogenase 5
Summary
This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]
Known Variants224 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs114663094 | 12:56,114,181 | C/T | — | benign |
| rs886049672 | 12:56,114,182 | G/A | — | uncertain significance |
| rs886049673 | 12:56,114,211 | G/A | — | uncertain significance |
| rs7972217 | 12:56,114,214 | G/A | — | likely benign |
| rs3138144 | 12:56,114,769 | G/C | regulatory region variant | benign |
| rs201563497 | 12:56,114,928 | C/T | — | likely benign |
| rs1217369608 | 12:56,114,976 | T/C | — | uncertain significance |
| rs2136138716 | 12:56,114,995 | C/G | — | likely benign |
| rs753835142 | 12:56,114,999 | C/T | — | uncertain significance |
| rs2136138727 | 12:56,115,007 | A/C | — | likely benign |
| rs188321127 | 12:56,115,010 | G/A | — | likely benign |
| rs748014752 | 12:56,115,011 | C/T | — | likely benign |
| rs757963264 | 12:56,115,012 | T/C | — | uncertain significance |
| rs200866394 | 12:56,115,020 | C/A | — | uncertain significance |
| rs1231952530 | 12:56,115,022 | C/T | — | uncertain significance |
| rs370781214 | 12:56,115,024 | G/A | — | uncertain significance |
| rs749791034 | 12:56,115,029 | C/G | — | uncertain significance |
| rs3138143 | 12:56,115,030 | G/A | — | uncertain significance |
| rs2540002344 | 12:56,115,032 | C/T | — | pathogenic |
| rs2540002350 | 12:56,115,033 | A/G | — | uncertain significance |
| rs528665265 | 12:56,115,043 | C/T | — | likely benign |
| rs762299079 | 12:56,115,044 | G/A | — | uncertain significance |
| rs374702470 | 12:56,115,046 | C/T | — | likely benign |
| rs2136138843 | 12:56,115,050 | A/G | — | likely benign |
| rs62638195 | 12:56,115,065 | A/G | — | conflicting classifications of pathogenicity |
| rs146059919 | 12:56,115,066 | T/C | — | uncertain significance |
| rs766584523 | 12:56,115,068 | A/G | — | uncertain significance |
| rs374471761 | 12:56,115,070 | C/T | — | likely benign |
| rs759359491 | 12:56,115,071 | G/A | — | pathogenic |
| rs1404823974 | 12:56,115,092 | C/T | — | conflicting classifications of pathogenicity |
| rs369746580 | 12:56,115,093 | G/A | — | uncertain significance |
| rs1479107354 | 12:56,115,123 | G/T | — | uncertain significance |
| rs769035379 | 12:56,115,128 | C/T | stop gained | pathogenic |
| rs200548164 | 12:56,115,129 | G/A | — | uncertain significance |
| rs1445522642 | 12:56,115,150 | C/T | — | uncertain significance |
| rs2540002687 | 12:56,115,153 | C/T | — | uncertain significance |
| rs773514584 | 12:56,115,154 | C/G | — | likely benign |
| rs753970388 | 12:56,115,158 | G/A | — | uncertain significance |
| rs1058634 | 12:56,115,163 | C/T | — | likely benign |
| rs140046452 | 12:56,115,164 | G/A | — | uncertain significance |
| rs114473507 | 12:56,115,168 | A/C | — | conflicting classifications of pathogenicity |
| rs1058635 | 12:56,115,176 | C/T | — | conflicting classifications of pathogenicity |
| rs111434594 | 12:56,115,177 | G/A | — | uncertain significance |
| rs2540002816 | 12:56,115,181 | G/T | — | likely benign |
| rs62638185 | 12:56,115,186 | C/T | missense variant | pathogenic |
| rs1345933715 | 12:56,115,187 | C/T | — | likely benign |
| rs144321355 | 12:56,115,191 | C/A | — | uncertain significance |
| rs140121982 | 12:56,115,192 | G/A | — | likely benign |
| rs1876911555 | 12:56,115,194 | C/A | — | uncertain significance |
| rs748707514 | 12:56,115,199 | C/T | — | likely benign |
| rs758793949 | 12:56,115,200 | A/C | — | uncertain significance |
| rs1876912236 | 12:56,115,201 | C/T | — | uncertain significance |
| rs146341572 | 12:56,115,220 | T/C | — | likely benign |
| rs963655569 | 12:56,115,221 | G/C | — | uncertain significance |
| rs976400437 | 12:56,115,230 | A/C | — | uncertain significance |
| rs775251374 | 12:56,115,232 | C/A | — | uncertain significance |
| rs1136125 | 12:56,115,233 | G/A | — | likely benign |
| rs764069180 | 12:56,115,249 | A/G | — | uncertain significance |
| rs1876916255 | 12:56,115,252 | G/A | — | pathogenic |
| rs774122562 | 12:56,115,253 | G/A | stop gained | pathogenic |
| rs142930741 | 12:56,115,265 | C/T | — | likely benign |
| rs151104839 | 12:56,115,266 | G/A | — | uncertain significance |
| rs1298361085 | 12:56,115,279 | G/A | — | pathogenic |
| rs1426257531 | 12:56,115,288 | G/A | — | likely benign |
| rs765942996 | 12:56,115,297 | C/G | — | likely benign |
| rs2540003517 | 12:56,115,460 | C/T | — | likely benign |
| rs369461881 | 12:56,115,461 | A/G | — | conflicting classifications of pathogenicity |
| rs760341430 | 12:56,115,468 | C/T | — | likely benign |
| rs765993603 | 12:56,115,475 | C/T | — | uncertain significance |
| rs754600338 | 12:56,115,487 | G/C | — | uncertain significance |
| rs141098197 | 12:56,115,502 | G/A | — | uncertain significance |
| rs2136139484 | 12:56,115,507 | T/C | — | likely benign |
| rs372509429 | 12:56,115,513 | C/A | — | likely benign |
| rs200207744 | 12:56,115,516 | C/G | — | uncertain significance |
| rs778777287 | 12:56,115,517 | G/A | — | conflicting classifications of pathogenicity |
| rs144972315 | 12:56,115,524 | C/T | — | uncertain significance |
| rs2136139518 | 12:56,115,525 | A/G | — | likely benign |
| rs1172039620 | 12:56,115,526 | C/T | — | uncertain significance |
| rs61733971 | 12:56,115,528 | A/G | — | benign |
| rs760444489 | 12:56,115,533 | T/C | — | uncertain significance |
| rs1394352343 | 12:56,115,539 | G/A | — | uncertain significance |
| rs141993855 | 12:56,115,543 | C/G | — | uncertain significance |
| rs377029071 | 12:56,115,544 | G/A | — | pathogenic |
| rs1375072872 | 12:56,115,546 | T/C | — | likely benign |
| rs375788435 | 12:56,115,550 | C/T | — | pathogenic |
| rs762360614 | 12:56,115,553 | C/T | — | uncertain significance |
| rs767968568 | 12:56,115,554 | G/A | — | uncertain significance |
| rs62638187 | 12:56,115,556 | G/C | — | uncertain significance |
| rs1458285598 | 12:56,115,561 | G/A | — | likely benign |
| rs550766930 | 12:56,115,563 | A/C | — | likely benign |
| rs2540003783 | 12:56,115,565 | G/A | — | uncertain significance |
| rs1239941012 | 12:56,115,570 | C/T | — | likely benign |
| rs748274544 | 12:56,115,574 | A/G | — | uncertain significance |
| rs886049674 | 12:56,115,579 | T/A | — | uncertain significance |
| rs3138142 | 12:56,115,585 | C/T | — | benign |
| rs1441919941 | 12:56,115,606 | G/C | — | likely benign |
| rs1381833521 | 12:56,115,622 | G/A | — | uncertain significance |
| rs746749499 | 12:56,115,625 | C/T | — | uncertain significance |
| rs199858358 | 12:56,115,626 | G/A | — | uncertain significance |
| rs1220616311 | 12:56,115,628 | G/T | — | uncertain significance |
Showing 100 of 224 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.