HIBADH
3-hydroxyisobutyrate dehydrogenase
Summary
This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs775828480 | 7:27,570,864 | C/T | — | uncertain significance |
| rs970616917 | 7:27,570,915 | G/A | — | uncertain significance |
| rs140422741 | 7:27,570,942 | C/A | — | likely benign |
| rs1431297792 | 7:27,570,953 | G/T | — | uncertain significance |
| rs765161843 | 7:27,577,997 | T/C | — | uncertain significance |
| rs755307559 | 7:27,578,035 | G/T | — | uncertain significance |
| rs200680648 | 7:27,582,620 | T/C | — | uncertain significance |
| rs200702367 | 7:27,582,633 | A/G | — | uncertain significance |
| rs780213428 | 7:27,582,689 | G/A | — | uncertain significance |
| rs12673949 | 7:27,600,634 | G/T | — | — |
| rs12539707 | 7:27,626,165 | T/C | intron variant | — |
| rs7790498 | 7:27,653,207 | A/G | intron variant | — |
| rs12700823 | 7:27,659,221 | G/A | intron variant | — |
| rs775232304 | 7:27,669,040 | T/C | — | uncertain significance |
| rs2391448 | 7:27,678,185 | C/G | — | — |
| rs2391449 | 7:27,685,146 | C/T | intron variant | — |
| rs768681188 | 7:27,689,099 | C/T | — | uncertain significance |
| rs371063501 | 7:27,689,115 | C/T | — | uncertain significance |
| rs1786449018 | 7:27,702,319 | G/A | — | uncertain significance |
| rs901133047 | 7:27,702,335 | C/A | — | uncertain significance |
| rs1257819272 | 7:27,702,337 | G/A | — | uncertain significance |
| rs754345433 | 7:27,702,340 | G/A | — | uncertain significance |
| rs1399979115 | 7:27,702,377 | C/T | — | uncertain significance |
| rs2534472060 | 7:27,702,386 | G/A | — | uncertain significance |
| rs12531952 | 7:27,703,830 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.