C34Y (p.Cys34Tyr) variant of ACVRL1 (Activin receptor type-1-like)
C34Y (p.Cys34Tyr) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phenotype. The record also includes published literature and structural context.
C34Y (p.Cys34Tyr) variant details
- p.Cys34Tyr
- rs2540158265
- ClinGen CA384897509
- ClinVar RCV002378063
- ClinVar RCV003098413
- Pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phenotype
- Missense
- ClinVar: Pathogenic (Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular p)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for… (PMID 16752392)
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)