CRLS1
cardiolipin synthase 1
Summary
This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [provided by RefSeq, Apr 2016]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1476871319 | 20:5,986,896 | C/A | — | uncertain significance |
| rs2514553539 | 20:5,986,933 | T/G | — | uncertain significance |
| rs1600339324 | 20:5,986,946 | T/G | — | likely benign |
| rs904818573 | 20:5,986,954 | C/T | — | uncertain significance |
| rs1000740241 | 20:5,986,957 | G/A | — | uncertain significance |
| rs964454807 | 20:5,986,977 | C/A | — | uncertain significance |
| rs1246446161 | 20:5,987,130 | G/A | — | uncertain significance |
| rs1370188305 | 20:5,987,131 | C/T | — | uncertain significance |
| rs747032801 | 20:5,987,158 | C/T | — | uncertain significance |
| rs753189895 | 20:5,987,170 | A/G | — | likely benign |
| rs2090057688 | 20:5,987,184 | A/T | — | uncertain significance |
| rs1568615047 | 20:5,990,440 | T/A | — | pathogenic |
| rs371425827 | 20:5,990,443 | C/T | — | uncertain significance |
| rs369155508 | 20:5,996,026 | G/A | — | uncertain significance |
| rs759395960 | 20:5,996,077 | C/A | — | pathogenic |
| rs148884159 | 20:6,002,954 | A/G | intron variant | — |
| rs202046329 | 20:6,011,982 | T/C | — | uncertain significance |
| rs764608497 | 20:6,012,005 | C/T | — | pathogenic |
| rs143054158 | 20:6,012,715 | T/C | — | uncertain significance |
| rs367739543 | 20:6,015,168 | A/G | — | uncertain significance |
| rs372404434 | 20:6,017,725 | T/G | — | uncertain significance |
| rs1486034940 | 20:6,017,757 | A/G | — | uncertain significance |
| rs149380663 | 20:6,017,765 | T/C | — | likely benign |
| rs372843737 | 20:6,017,767 | A/T | — | uncertain significance |
| rs142126140 | 20:6,019,602 | A/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.