rs121917837

This is a variant in the NEUROG3 gene that changes a arginine to an serine.

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ClinVar annotation

Pathogenic★☆☆☆
4 submitters9 publications

Congenital malabsorptive diarrhea 4; NEUROG3-related disorder

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About NEUROG3

The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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