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DLST

Synonyms
DLTS, KGD2, PGL7
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,406
Likely benign
2,821
Benign
0

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on DLST gene.

Phenotype class
Patients in 3billion (%)

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