rs142674939

This variant is located in the GDAP1 gene.

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ClinVar annotation

Likely Benign★★★☆
4 submitters2 publications

Charcot-Marie-Tooth disease type 4A; Inborn genetic diseases; not provided; not specified

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About GDAP1

This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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