rs367768260
This is a variant in the SMARCB1 gene that changes a methionine to an valine.
▶ClinVar annotation
Hereditary cancer-predisposing syndrome; Intellectual disability, autosomal dominant 15 (CSS3); Rhabdoid tumor predisposition syndrome 1 (RTPS1); SMARCB1-related schwannomatosis; not specified
View on ClinVar →About SMARCB1
The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
View all SMARCB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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