rs200779997
This variant is located in the TGFBR1 gene.
▶ClinVar annotation
Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome
View on ClinVar →About TGFBR1
The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
View all TGFBR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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