rs561506934

This variant is located in the NDRG1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Charcot-Marie-Tooth disease type 4D

About NDRG1

This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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