rs375169191
This variant is located in the SMG9 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout SMG9
This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]
View all SMG9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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