RDH13
retinol dehydrogenase 13
Summary
This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs78486780 | 19:55,552,707 | G/A | upstream gene variant | — |
| rs1654440 | 19:55,554,711 | C/T | downstream gene variant | — |
| rs769019103 | 19:55,556,471 | A/C | — | uncertain significance |
| rs2514493806 | 19:55,556,476 | G/A | — | uncertain significance |
| rs762562862 | 19:55,556,495 | G/A | — | uncertain significance |
| rs761854926 | 19:55,556,498 | C/T | — | uncertain significance |
| rs1056382660 | 19:55,556,519 | G/A | — | uncertain significance |
| rs571440646 | 19:55,556,543 | C/T | — | uncertain significance |
| rs113172282 | 19:55,556,637 | G/T | — | likely benign |
| rs199550400 | 19:55,558,758 | G/T | — | uncertain significance |
| rs896616526 | 19:55,558,765 | G/C | — | uncertain significance |
| rs142606303 | 19:55,558,806 | G/A | — | benign |
| rs370269755 | 19:55,559,706 | G/A | — | uncertain significance |
| rs2514598674 | 19:55,559,716 | C/G | — | uncertain significance |
| rs765512115 | 19:55,559,730 | G/A | — | uncertain significance |
| rs202206994 | 19:55,559,734 | G/A | — | likely benign |
| rs777454518 | 19:55,559,739 | C/T | — | uncertain significance |
| rs201087566 | 19:55,559,843 | T/C | — | uncertain significance |
| rs149051573 | 19:55,560,067 | G/A | — | likely benign |
| rs539354138 | 19:55,560,083 | C/T | — | likely benign |
| rs773039012 | 19:55,560,087 | G/A | — | uncertain significance |
| rs372467009 | 19:55,560,098 | G/A | — | uncertain significance |
| rs1243436856 | 19:55,560,104 | T/C | — | uncertain significance |
| rs534057094 | 19:55,560,126 | C/G | — | uncertain significance |
| rs10419976 | 19:55,562,374 | G/C | — | — |
| rs4588108 | 19:55,564,317 | T/A | downstream gene variant | — |
| rs2124089 | 19:55,564,615 | G/A | — | — |
| rs11672111 | 19:55,565,634 | G/A | — | — |
| rs11672139 | 19:55,565,791 | G/T | — | — |
| rs144942284 | 19:55,568,047 | C/A | — | uncertain significance |
| rs183720506 | 19:55,568,114 | G/A | — | uncertain significance |
| rs372018032 | 19:55,568,116 | A/T | — | uncertain significance |
| rs199679574 | 19:55,568,131 | G/A | — | uncertain significance |
| rs573219991 | 19:55,568,132 | C/T | — | uncertain significance |
| rs773994783 | 19:55,568,150 | C/A | — | uncertain significance |
| rs767005997 | 19:55,568,153 | G/C | — | uncertain significance |
| rs2075734481 | 19:55,570,585 | T/C | — | uncertain significance |
| rs200371141 | 19:55,570,590 | G/A | — | uncertain significance |
| rs1268647997 | 19:55,576,688 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.