C1043Y (p.Cys1043Tyr) variant of ABCC9 (O60706)
C1043Y (p.Cys1043Tyr) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypertrichotic osteochondrodysplasia Cantu type. The record also includes published literature and structural context.
C1043Y (p.Cys1043Tyr) variant details
- p.Cys1043Tyr
- rs387907210
- ClinGen CA260066
- ClinVar RCV000024626
- UniProt VAR 068492
- Pathogenic
- Hypertrichotic osteochondrodysplasia Cantu type
- Missense
- ClinVar: Pathogenic (Hypertrichotic osteochondrodysplasia Cantu type)
- EBI: Pathogenic (in HTOCD)
- UniProt: Pathogenic (in HTOCD)
- Structural context available
- Cited in: Cantú syndrome is caused by mutations in ABCC9. (PMID 22608503)
- Cited in: Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP… (PMID 26621776)