R1154Q (p.Arg1154Gln) variant of ABCC9 (O60706)
R1154Q (p.Arg1154Gln) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCC9-related disorder; Hypertrichotic osteochondrodysplasia Cantu type; not pro. The record also includes published literature and structural context.
R1154Q (p.Arg1154Gln) variant details
- p.Arg1154Gln
- rs387907209
- ClinGen CA260062
- cosmic curated COSV53970
- ClinVar RCV000024625
- Pathogenic
- ABCC9-related disorder; Hypertrichotic osteochondrodysplasia Cantu type; not pro
- Missense
- ClinVar: Pathogenic (ABCC9-related disorder; Hypertrichotic osteochondrodysplasia Can)
- EBI: Pathogenic (in HTOCD)
- UniProt: Pathogenic (in HTOCD)
- Structural context available
- Cited in: Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of… (PMID 16835932)
- Cited in: Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. (PMID 21344641)