N96S (p.Asn96Ser) variant of ACVRL1 (Activin receptor type-1-like)
N96S (p.Asn96Ser) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phenotype. The record also includes published literature and structural context.
N96S (p.Asn96Ser) variant details
- p.Asn96Ser
- rs2540159181
- ClinGen CA384898086
- ClinVar RCV002437773
- ClinVar RCV006471353
- Pathogenic/Likely pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phenotype
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular p)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. (PMID 20414677)
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)