R1116H (p.Arg1116His) variant of ABCC9 (O60706)
R1116H (p.Arg1116His) 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; Dilated cardiomyopathy 1O. The record also includes published literature and structural context.
R1116H (p.Arg1116His) variant details
- p.Arg1116His
- rs387907227
- ClinGen CA260083
- ClinVar RCV000029188
- ClinVar RCV001216671
- Pathogenic
- Hypertrichotic osteochondrodysplasia Cantu type; Dilated cardiomyopathy 1O
- Missense
- ClinVar: Pathogenic (Hypertrichotic osteochondrodysplasia Cantu type; Dilated cardiom)
- EBI: Pathogenic (in HTOCD)
- UniProt: Pathogenic (in HTOCD)
- Structural context available
- Cited in: Dominant missense mutations in ABCC9 cause Cantú syndrome. (PMID 22610116)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)