rs775964053

This variant is located in the NADK2 gene.

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ClinVar annotation

Likely Benign★★★☆
2 submitters1 publication

not specified; Progressive encephalopathy with leukodystrophy due to DECR deficiency

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About NADK2

This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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