rs1479568972

This variant is located in the DLST gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Oxoglutaricaciduria

About DLST

This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]

View all DLST variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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