rs764145478
This variant is located in the ACVRL1 gene.
▶ClinVar annotation
Telangiectasia, hereditary hemorrhagic, type 2
View on ClinVar →About ACVRL1
This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
View all ACVRL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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