rs373875820

This variant is located in the HNF1B gene.

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ClinVar annotation

Likely Benign★★★☆
3 submitters2 publications

not specified; not provided; Renal cysts and diabetes syndrome;Type 2 diabetes mellitus;Nonpapillary renal cell carcinoma

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About HNF1B

This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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