R1116C (p.Arg1116Cys) variant of ABCC9 (O60706)
R1116C (p.Arg1116Cys) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Hypertrichotic osteochondrodysplasia Can. The record also includes published literature and structural context.
R1116C (p.Arg1116Cys) variant details
- p.Arg1116Cys
- rs387907228
- ClinGen CA260087
- cosmic curated COSV53983
- ClinVar RCV000029189
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Hypertrichotic osteochondrodysplasia Can
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Hypertrichotic osteochon)
- 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)