H60Y (p.His60Tyr) variant of ABCC9 (O60706)
H60Y (p.His60Tyr) 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.
H60Y (p.His60Tyr) variant details
- p.His60Tyr
- rs387907230
- ClinGen CA260095
- ClinVar RCV000029191
- UniProt VAR 068485
- 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: report of nine new cases and expansion of the clinical phenotype. (PMID 21344641)
- Cited in: Dominant missense mutations in ABCC9 cause Cantú syndrome. (PMID 22610116)