rs1480672278

This variant is located in the HNF1A gene.

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ClinVar annotation

Uncertain Significance★★★★

5 submitters6 publications

Maturity-onset diabetes of the young type 3; Monogenic diabetes; not provided; Maturity-onset diabetes of the young; not specified

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About HNF1A

The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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