ALDH16A1
aldehyde dehydrogenase 16 family member A1
Summary
This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144362005 | 19:49,956,613 | C/A | — | likely benign |
| rs751164091 | 19:49,956,616 | G/C | — | uncertain significance |
| rs374602442 | 19:49,956,655 | C/T | — | uncertain significance |
| rs2513934062 | 19:49,961,792 | A/G | — | uncertain significance |
| rs1601020832 | 19:49,962,310 | A/T | — | likely benign |
| rs139828172 | 19:49,962,927 | G/A | — | likely benign |
| rs375424147 | 19:49,962,991 | C/T | — | uncertain significance |
| rs148896743 | 19:49,963,010 | G/A | — | uncertain significance |
| rs141919669 | 19:49,963,021 | G/A | — | uncertain significance |
| rs1260152495 | 19:49,964,079 | G/A | — | uncertain significance |
| rs752617351 | 19:49,964,105 | A/G | — | uncertain significance |
| rs748594854 | 19:49,964,144 | G/A | — | uncertain significance |
| rs1416838838 | 19:49,964,150 | G/T | — | uncertain significance |
| rs146957921 | 19:49,964,166 | G/A | — | benign |
| rs370344103 | 19:49,964,990 | C/T | — | uncertain significance |
| rs746684413 | 19:49,965,027 | C/G | — | uncertain significance |
| rs776704156 | 19:49,965,053 | C/G | — | uncertain significance |
| rs763896254 | 19:49,965,145 | G/A | — | uncertain significance |
| rs756830979 | 19:49,965,147 | C/T | — | uncertain significance |
| rs774247003 | 19:49,965,168 | G/A | — | uncertain significance |
| rs745940024 | 19:49,965,169 | C/A | — | uncertain significance |
| rs776050480 | 19:49,965,170 | G/A | — | likely benign |
| rs142764735 | 19:49,965,172 | G/A | — | likely benign |
| rs865888467 | 19:49,965,181 | C/G | — | uncertain significance |
| rs7259917 | 19:49,965,185 | G/T | — | uncertain significance |
| rs766288352 | 19:49,965,186 | C/A | — | uncertain significance |
| rs867804273 | 19:49,965,196 | C/T | — | uncertain significance |
| rs2513941728 | 19:49,965,220 | T/C | — | uncertain significance |
| rs202209926 | 19:49,965,227 | G/T | — | likely benign |
| rs368885802 | 19:49,965,241 | T/C | — | uncertain significance |
| rs753706372 | 19:49,965,845 | A/G | — | uncertain significance |
| rs145242308 | 19:49,965,870 | C/T | — | uncertain significance |
| rs776418561 | 19:49,965,906 | G/C | — | uncertain significance |
| rs1424080030 | 19:49,965,920 | C/G | — | uncertain significance |
| rs540211470 | 19:49,965,932 | G/A | — | uncertain significance |
| rs1419489967 | 19:49,965,944 | G/A | — | uncertain significance |
| rs767851623 | 19:49,965,959 | G/A | — | uncertain significance |
| rs754363579 | 19:49,965,971 | G/C | — | uncertain significance |
| rs1042705967 | 19:49,966,000 | C/G | — | uncertain significance |
| rs370671753 | 19:49,967,136 | C/T | — | uncertain significance |
| rs773738731 | 19:49,967,141 | C/T | — | uncertain significance |
| rs576632177 | 19:49,967,402 | G/A | — | uncertain significance |
| rs766273860 | 19:49,967,418 | G/C | — | uncertain significance |
| rs772769557 | 19:49,967,448 | A/G | — | uncertain significance |
| rs375093482 | 19:49,967,690 | G/C | — | uncertain significance |
| rs756534916 | 19:49,967,693 | T/C | — | uncertain significance |
| rs147203240 | 19:49,967,718 | A/T | — | likely benign |
| rs138995716 | 19:49,967,907 | C/T | — | uncertain significance |
| rs200873076 | 19:49,967,912 | C/T | — | likely benign |
| rs145782809 | 19:49,967,929 | G/C | — | uncertain significance |
| rs372218834 | 19:49,967,995 | C/T | — | uncertain significance |
| rs150414818 | 19:49,969,006 | C/A | missense variant | — |
| rs758946675 | 19:49,969,009 | A/T | — | uncertain significance |
| rs138383674 | 19:49,969,030 | G/A | — | uncertain significance |
| rs780408604 | 19:49,969,068 | C/T | — | uncertain significance |
| rs978835076 | 19:49,969,425 | C/T | — | uncertain significance |
| rs201941123 | 19:49,969,461 | C/T | — | uncertain significance |
| rs181566168 | 19:49,969,468 | G/A | — | likely benign |
| rs1292459678 | 19:49,969,472 | G/C | — | uncertain significance |
| rs868579560 | 19:49,969,497 | G/A | — | uncertain significance |
| rs759050478 | 19:49,971,666 | G/A | — | uncertain significance |
| rs770180307 | 19:49,971,710 | G/A | — | uncertain significance |
| rs766785153 | 19:49,971,731 | G/C | — | uncertain significance |
| rs781383366 | 19:49,971,759 | A/G | — | uncertain significance |
| rs2513955583 | 19:49,971,797 | C/T | — | uncertain significance |
| rs11880051 | 19:49,972,822 | T/A | upstream gene variant | — |
| rs147032077 | 19:49,973,632 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.