S1020P (p.Ser1020Pro) variant of ABCC9 (O60706)
S1020P (p.Ser1020Pro) 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.
S1020P (p.Ser1020Pro) variant details
- p.Ser1020Pro
- rs387907229
- ClinGen CA260091
- ClinVar RCV000029190
- UniProt VAR 068490
- 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: Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. (PMID 10398267)
- Cited in: Dominant missense mutations in ABCC9 cause Cantú syndrome. (PMID 22610116)