CLYBL
citramalyl-CoA lyase
Summary
Enables (S)-citramalyl-CoA lyase activity; magnesium ion binding activity; and malate synthase activity. Involved in protein homotrimerization and regulation of cobalamin metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs756685660 | 13:100,258,954 | C/G | — | uncertain significance |
| rs865840508 | 13:100,258,959 | C/T | — | uncertain significance |
| rs184570178 | 13:100,258,980 | C/G | — | uncertain significance |
| rs759290602 | 13:100,258,987 | C/T | — | uncertain significance |
| rs762636582 | 13:100,258,998 | G/A | — | uncertain significance |
| rs200020595 | 13:100,258,999 | C/T | — | uncertain significance |
| rs370813733 | 13:100,259,001 | C/G | — | uncertain significance |
| rs4564437 | 13:100,288,789 | G/A | — | — |
| rs2153672 | 13:100,300,942 | C/T | intron variant | — |
| rs372612527 | 13:100,425,149 | G/A | — | uncertain significance |
| rs746942982 | 13:100,425,232 | G/T | — | uncertain significance |
| rs138042987 | 13:100,444,738 | G/A | intron variant | — |
| rs9513675 | 13:100,493,160 | G/A | intron variant | — |
| rs1440832118 | 13:100,511,125 | G/A | — | uncertain significance |
| rs770517871 | 13:100,511,145 | C/G | — | uncertain significance |
| rs201223108 | 13:100,511,245 | G/A | — | uncertain significance |
| rs1489748166 | 13:100,511,272 | C/G | — | uncertain significance |
| rs139054361 | 13:100,512,268 | C/T | regulatory region variant | — |
| rs1418964021 | 13:100,517,096 | G/A | — | likely benign |
| rs1460518824 | 13:100,517,123 | G/C | — | uncertain significance |
| rs960129275 | 13:100,517,132 | G/A | — | uncertain significance |
| rs1291957716 | 13:100,517,154 | G/A | — | uncertain significance |
| rs373840200 | 13:100,518,502 | A/G | — | uncertain significance |
| rs757176808 | 13:100,518,515 | C/A | — | uncertain significance |
| rs771460003 | 13:100,518,554 | T/C | — | uncertain significance |
| rs41281112 | 13:100,518,634 | C/T | stop gained | — |
| rs540417575 | 13:100,518,635 | G/A | — | uncertain significance |
| rs147370162 | 13:100,518,646 | G/A | — | uncertain significance |
| rs763255371 | 13:100,518,650 | T/C | — | uncertain significance |
| rs9557321 | 13:100,521,101 | T/C | intron variant | — |
| rs541038022 | 13:100,523,268 | G/C | — | uncertain significance |
| rs2502849494 | 13:100,543,603 | A/T | — | uncertain significance |
| rs148921379 | 13:100,543,639 | C/T | — | uncertain significance |
| rs9517908 | 13:100,549,885 | G/A | downstream gene variant | — |
| rs7992643 | 13:100,555,038 | G/C | intergenic variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.