rs1247300129

This variant is located in the SMARCB1 gene.

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ClinVar annotation

Likely Benign★★★☆

2 submitters1 publication

Hereditary cancer-predisposing syndrome; not provided

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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