Y985S (p.Tyr985Ser) variant of ABCC9 (O60706)
Y985S (p.Tyr985Ser) 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.
Y985S (p.Tyr985Ser) variant details
- p.Tyr985Ser
- rs2137395750
- ClinGen CA384120272
- ClinVar RCV003444087
- Ensembl rs2137395750
- Pathogenic
- Hypertrichotic osteochondrodysplasia Cantu type
- Missense
- ClinVar: Pathogenic (Hypertrichotic osteochondrodysplasia Cantu type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cantú Syndrome. (PMID 25275207)