R1217K (p.Arg1217Lys) variant of ABCC9 (O60706)
R1217K (p.Arg1217Lys) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypertrichotic osteochondrodysplasia Cantu type. The record also includes published literature and structural context.
R1217K (p.Arg1217Lys) variant details
- p.Arg1217Lys
- rs12298510
- ClinGen CA233624691
- NCI-TCGA Cosmic COSV5396
- ClinVar RCV000656401
- Likely pathogenic
- Hypertrichotic osteochondrodysplasia Cantu type
- Missense
- ClinVar: Likely pathogenic (Hypertrichotic osteochondrodysplasia Cantu type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cantú Syndrome. (PMID 25275207)