rs201542440

This variant is located in the NEUROD1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters2 publications

not provided; Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 6

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About NEUROD1

This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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