HMGCLL1
3-hydroxy-3-methylglutaryl-CoA lyase like 1
Summary
Enables hydroxymethylglutaryl-CoA lyase activity. Involved in ketone body biosynthetic process. Located in several cellular components, including cytosol; endoplasmic reticulum; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs373359419 | 6:55,300,473 | G/A | — | uncertain significance |
| rs201246283 | 6:55,300,540 | T/A | — | uncertain significance |
| rs530446544 | 6:55,301,146 | C/A | — | — |
| rs764166829 | 6:55,304,270 | C/T | — | uncertain significance |
| rs761997706 | 6:55,304,273 | C/T | — | uncertain significance |
| rs763493743 | 6:55,304,300 | T/C | — | uncertain significance |
| rs896718116 | 6:55,304,342 | C/T | — | uncertain significance |
| rs201456410 | 6:55,360,227 | G/A | — | uncertain significance |
| rs760917667 | 6:55,360,228 | T/A | — | uncertain significance |
| rs752716887 | 6:55,360,290 | G/T | — | uncertain significance |
| rs531012194 | 6:55,360,336 | G/C | — | uncertain significance |
| rs372806502 | 6:55,360,351 | T/C | — | uncertain significance |
| rs377232502 | 6:55,360,360 | C/T | — | uncertain significance |
| rs371052536 | 6:55,360,394 | T/A | — | uncertain significance |
| rs550027223 | 6:55,360,715 | C/T | — | — |
| rs759817782 | 6:55,378,870 | C/T | — | uncertain significance |
| rs1380165053 | 6:55,378,874 | C/T | — | uncertain significance |
| rs770705139 | 6:55,378,932 | C/A | — | uncertain significance |
| rs1346361494 | 6:55,378,948 | T/G | — | uncertain significance |
| rs1426685554 | 6:55,378,988 | C/G | — | uncertain significance |
| rs200829639 | 6:55,381,350 | G/A | — | uncertain significance |
| rs199603898 | 6:55,406,540 | C/A | — | uncertain significance |
| rs1405307136 | 6:55,406,546 | G/A | — | uncertain significance |
| rs1304429959 | 6:55,406,559 | T/A | — | uncertain significance |
| rs376191221 | 6:55,406,565 | C/G | — | uncertain significance |
| rs201603961 | 6:55,406,881 | T/A | — | uncertain significance |
| rs1179174287 | 6:55,406,884 | G/C | — | uncertain significance |
| rs7755709 | 6:55,423,717 | C/T | intron variant | — |
| rs147546536 | 6:55,436,342 | G/A | intron variant | — |
| rs11754509 | 6:55,473,294 | A/G | intergenic variant | — |
| rs202003174 | 6:55,512,983 | T/C | — | — |
| rs185926599 | 6:55,524,042 | A/G | intergenic variant | — |
| rs11753370 | 6:55,531,243 | A/G | intergenic variant | — |
| rs72975088 | 6:55,535,375 | A/T | intergenic variant | — |
| rs4715561 | 6:55,541,417 | C/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.