rs200329027

This variant is located in the GSDMB gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About GSDMB

This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. [provided by RefSeq, Nov 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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