rs1279138

This variant is located in the DHTKD1 gene.

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ClinVar annotation

Benign★★★☆
5 submitters2 publications

2-aminoadipic 2-oxoadipic aciduria; not specified; Charcot-Marie-Tooth disease axonal type 2Q; not provided

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About DHTKD1

This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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