ALDH18A1
aldehyde dehydrogenase 18 family member A1
Summary
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
Known Variants588 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs375868871 | 10:97,365,690 | G/A | — | uncertain significance |
| rs184009046 | 10:97,365,785 | G/T | — | likely benign |
| rs4037 | 10:97,365,820 | G/A | — | benign |
| rs557388312 | 10:97,365,821 | C/T | — | uncertain significance |
| rs1052895099 | 10:97,365,875 | T/C | — | uncertain significance |
| rs41291562 | 10:97,365,908 | C/T | — | benign |
| rs886047508 | 10:97,366,053 | A/C | — | uncertain significance |
| rs8758 | 10:97,366,107 | A/G | — | benign |
| rs913851343 | 10:97,366,226 | C/T | — | uncertain significance |
| rs78053774 | 10:97,366,227 | G/A | — | likely benign |
| rs943341 | 10:97,366,292 | T/C | — | benign |
| rs886047509 | 10:97,366,317 | A/G | — | uncertain significance |
| rs1053905 | 10:97,366,364 | C/T | — | benign |
| rs76824727 | 10:97,366,379 | G/A | — | conflicting classifications of pathogenicity |
| rs114393346 | 10:97,366,463 | A/T | — | likely benign |
| rs201876082 | 10:97,366,511 | G/A | — | likely benign |
| rs747918055 | 10:97,366,524 | T/C | — | uncertain significance |
| rs772994890 | 10:97,366,537 | A/C | — | likely benign |
| rs377506019 | 10:97,366,546 | G/A | — | likely benign |
| rs1364987786 | 10:97,366,554 | C/T | — | uncertain significance |
| rs121434583 | 10:97,366,557 | G/A | missense variant | pathogenic |
| rs774047299 | 10:97,366,562 | T/C | missense variant | pathogenic |
| rs2526671188 | 10:97,366,563 | A/G | — | likely pathogenic |
| rs2526671232 | 10:97,366,568 | A/G | — | uncertain significance |
| rs143874727 | 10:97,366,572 | T/C | — | conflicting classifications of pathogenicity |
| rs553385013 | 10:97,366,578 | G/A | — | uncertain significance |
| rs1047715712 | 10:97,366,579 | C/G | — | uncertain significance |
| rs369153920 | 10:97,366,599 | C/T | — | uncertain significance |
| rs1290552678 | 10:97,366,600 | G/A | — | likely benign |
| rs2526671765 | 10:97,366,609 | C/T | — | likely benign |
| rs537043237 | 10:97,366,613 | C/T | missense variant | pathogenic |
| rs1462559161 | 10:97,366,614 | G/A | — | conflicting classifications of pathogenicity |
| rs2526671885 | 10:97,366,622 | C/T | — | uncertain significance |
| rs747072972 | 10:97,366,624 | C/T | — | likely benign |
| rs1182377051 | 10:97,366,628 | G/A | — | uncertain significance |
| rs755019667 | 10:97,366,629 | T/C | — | uncertain significance |
| rs2526672086 | 10:97,366,630 | A/G | — | likely benign |
| rs781126562 | 10:97,366,631 | G/A | — | uncertain significance |
| rs2139513699 | 10:97,366,637 | A/C | — | uncertain significance |
| rs2097823750 | 10:97,366,640 | C/T | — | uncertain significance |
| rs2139513721 | 10:97,366,647 | G/A | — | uncertain significance |
| rs2139513759 | 10:97,366,650 | C/T | — | uncertain significance |
| rs748925635 | 10:97,366,661 | C/T | — | pathogenic |
| rs759016790 | 10:97,366,666 | G/A | — | likely benign |
| rs148601288 | 10:97,366,675 | C/T | — | conflicting classifications of pathogenicity |
| rs762271422 | 10:97,366,676 | G/C | — | conflicting classifications of pathogenicity |
| rs2526672768 | 10:97,366,677 | A/T | — | uncertain significance |
| rs765567477 | 10:97,366,682 | C/A | — | uncertain significance |
| rs1002367939 | 10:97,366,690 | C/T | — | likely benign |
| rs149309642 | 10:97,366,703 | G/A | — | likely benign |
| rs751744859 | 10:97,366,714 | T/A | — | likely benign |
| rs7099284 | 10:97,366,746 | C/T | — | benign |
| rs11592809 | 10:97,366,817 | T/G | — | benign |
| rs496426 | 10:97,366,834 | A/G | — | benign |
| rs200513474 | 10:97,369,937 | A/G | — | likely benign |
| rs10882640 | 10:97,369,939 | C/T | — | benign |
| rs771584878 | 10:97,369,959 | C/T | — | uncertain significance |
| rs2526695904 | 10:97,369,960 | C/T | — | uncertain significance |
| rs774916138 | 10:97,369,965 | C/T | — | uncertain significance |
| rs760203992 | 10:97,369,966 | G/A | — | uncertain significance |
| rs770249022 | 10:97,369,974 | T/A | — | likely pathogenic |
| rs773714478 | 10:97,369,983 | C/T | — | conflicting classifications of pathogenicity |
| rs202169492 | 10:97,369,984 | G/A | — | uncertain significance |
| rs374052426 | 10:97,370,000 | G/A | — | conflicting classifications of pathogenicity |
| rs2097831271 | 10:97,370,001 | A/G | — | uncertain significance |
| rs2097831296 | 10:97,370,011 | C/T | — | uncertain significance |
| rs2526696532 | 10:97,370,012 | A/G | — | likely benign |
| rs752669339 | 10:97,370,017 | C/G | missense variant | pathogenic |
| rs756291410 | 10:97,370,020 | C/T | — | uncertain significance |
| rs147842812 | 10:97,370,021 | G/A | — | likely benign |
| rs2097831329 | 10:97,370,025 | T/C | — | uncertain significance |
| rs753837028 | 10:97,370,039 | C/T | — | likely benign |
| rs1325485951 | 10:97,370,046 | T/C | — | uncertain significance |
| rs1479519734 | 10:97,370,054 | A/G | — | likely benign |
| rs542177817 | 10:97,370,056 | G/T | — | likely benign |
| rs1047521252 | 10:97,370,063 | A/G | — | likely benign |
| rs943342 | 10:97,370,197 | A/G | — | benign |
| rs943343 | 10:97,370,243 | G/A | — | benign |
| rs497331 | 10:97,370,331 | T/G | — | benign |
| rs2296689 | 10:97,370,843 | T/C | — | benign |
| rs2296690 | 10:97,370,942 | G/C | — | benign |
| rs2296691 | 10:97,370,989 | T/A | — | benign |
| rs375782465 | 10:97,371,000 | T/C | — | conflicting classifications of pathogenicity |
| rs2097833713 | 10:97,371,003 | G/A | — | likely benign |
| rs758219423 | 10:97,371,013 | C/T | — | conflicting classifications of pathogenicity |
| rs779516879 | 10:97,371,014 | G/A | — | uncertain significance |
| rs375705932 | 10:97,371,025 | C/T | — | uncertain significance |
| rs780721947 | 10:97,371,026 | G/A | — | likely benign |
| rs1131691722 | 10:97,371,028 | T/C | — | uncertain significance |
| rs771292407 | 10:97,371,035 | C/T | — | likely benign |
| rs1252707438 | 10:97,371,038 | G/A | — | likely benign |
| rs2526705065 | 10:97,371,042 | G/A | — | uncertain significance |
| rs746150080 | 10:97,371,045 | C/G | — | uncertain significance |
| rs1363547996 | 10:97,371,046 | T/C | — | uncertain significance |
| rs1399082693 | 10:97,371,056 | G/C | — | uncertain significance |
| rs2097833903 | 10:97,371,059 | G/A | — | likely benign |
| rs1266603998 | 10:97,371,061 | T/C | — | uncertain significance |
| rs2139530175 | 10:97,371,069 | A/G | — | uncertain significance |
| rs1382975082 | 10:97,371,072 | G/T | — | uncertain significance |
| rs764233894 | 10:97,371,082 | C/A | — | uncertain significance |
Showing 100 of 588 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.