rs142213379

This variant is located in the SMAD9 gene.

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ClinVar annotation

Conflicting Classifications
4 submitters3 publications

Pulmonary arterial hypertension associated with congenital heart disease; Pulmonary hypertension, primary, 2

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About SMAD9

The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

View all SMAD9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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