Q20* (p.Gln20Ter) variant of ACVRL1 (Activin receptor type-1-like)
Q20* (p.Gln20Ter) in ACVRL1 (Activin receptor type-1-like) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q20* (p.Gln20Ter) variant details
- p.Gln20Ter
- rs1555152345
- ClinGen CA384896740
- ClinVar RCV000640433
- Ensembl rs1555152345
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)