HAGH
hydroxyacylglutathione hydrolase
Summary
The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200374347 | 16:1,859,291 | C/T | — | uncertain significance |
| rs757638249 | 16:1,859,361 | C/T | — | uncertain significance |
| rs138163037 | 16:1,859,819 | C/T | — | uncertain significance |
| rs1381296034 | 16:1,859,828 | A/T | — | uncertain significance |
| rs143044850 | 16:1,863,116 | G/A | regulatory region variant | — |
| rs11859266 | 16:1,863,981 | C/T | — | — |
| rs185225846 | 16:1,864,996 | A/C | intron variant | — |
| rs563988047 | 16:1,866,917 | G/A | — | uncertain significance |
| rs747188644 | 16:1,866,928 | T/C | — | uncertain significance |
| rs560350072 | 16:1,866,941 | C/T | — | uncertain significance |
| rs138102620 | 16:1,866,946 | C/T | — | uncertain significance |
| rs2548170402 | 16:1,866,986 | A/G | — | uncertain significance |
| rs2548170840 | 16:1,867,254 | G/A | — | uncertain significance |
| rs779307191 | 16:1,869,190 | G/T | — | uncertain significance |
| rs200922408 | 16:1,869,209 | C/T | — | uncertain significance |
| rs2548173245 | 16:1,869,899 | T/G | — | uncertain significance |
| rs761686568 | 16:1,869,921 | T/C | — | likely benign |
| rs115389912 | 16:1,869,974 | G/A | missense variant | — |
| rs371060768 | 16:1,872,341 | C/T | — | uncertain significance |
| rs766808618 | 16:1,872,356 | C/T | — | likely benign |
| rs2548176974 | 16:1,872,913 | C/G | — | uncertain significance |
| rs773177991 | 16:1,872,979 | C/T | — | uncertain significance |
| rs757898477 | 16:1,872,996 | T/C | — | uncertain significance |
| rs1567263020 | 16:1,873,027 | G/C | — | uncertain significance |
| rs3760035 | 16:1,875,079 | G/C | upstream gene variant | — |
| rs1037815745 | 16:1,876,745 | G/A | — | uncertain significance |
| rs3743852 | 16:1,877,698 | C/G | synonymous variant | — |
| rs1143032 | 16:1,878,031 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.