rs1747104106
This variant is located in the NADK2 gene.
▶ClinVar annotation
Uncertain Significance★★★☆
2 submitters1 publicationProgressive encephalopathy with leukodystrophy due to DECR deficiency; Inborn genetic diseases
View on ClinVar →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]
View all NADK2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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