ADHFE1
alcohol dehydrogenase iron containing 1
Summary
The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs547671623 | 8:67,344,776 | G/C | — | uncertain significance |
| rs756221237 | 8:67,352,426 | A/G | — | uncertain significance |
| rs769966936 | 8:67,356,935 | T/C | — | uncertain significance |
| rs139870830 | 8:67,357,506 | C/A | — | uncertain significance |
| rs2487664736 | 8:67,357,638 | C/T | — | uncertain significance |
| rs1466038602 | 8:67,359,504 | A/G | — | uncertain significance |
| rs142885020 | 8:67,359,574 | T/A | — | uncertain significance |
| rs1030420 | 8:67,360,725 | C/A | — | — |
| rs2487682430 | 8:67,361,132 | G/A | — | uncertain significance |
| rs766239380 | 8:67,361,172 | G/A | — | likely benign |
| rs780608528 | 8:67,364,205 | A/G | — | uncertain significance |
| rs200761663 | 8:67,364,229 | G/A | — | uncertain significance |
| rs147236271 | 8:67,364,259 | G/A | — | uncertain significance |
| rs147833015 | 8:67,366,374 | A/T | — | uncertain significance |
| rs2303519 | 8:67,369,184 | C/T | upstream gene variant | — |
| rs766477543 | 8:67,369,308 | C/T | — | uncertain significance |
| rs2487725139 | 8:67,369,320 | G/A | — | uncertain significance |
| rs202089911 | 8:67,369,339 | C/T | — | uncertain significance |
| rs772185327 | 8:67,369,350 | T/C | — | uncertain significance |
| rs751588736 | 8:67,369,356 | G/A | — | uncertain significance |
| rs746517198 | 8:67,372,554 | C/T | — | uncertain significance |
| rs2487741791 | 8:67,372,699 | A/T | — | uncertain significance |
| rs138461673 | 8:67,380,507 | A/G | — | uncertain significance |
| rs952044082 | 8:67,380,510 | G/T | — | uncertain significance |
| rs10112574 | 8:67,381,268 | G/A | downstream gene variant | — |
| rs2555569 | 8:67,381,459 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.