C34S (p.Cys34Ser) variant of ACVRL1 (Activin receptor type-1-like)
C34S (p.Cys34Ser) 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. The record also includes published literature and structural context.
C34S (p.Cys34Ser) variant details
- p.Cys34Ser
- rs2540158250
- ClinGen CA384897503
- ClinVar RCV003842958
- Pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- ClinVar: Pathogenic (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)
- Cited in: International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. (PMID 19553198)