rs367844999

This variant is located in the AGK gene.

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ClinVar annotation

Conflicting Classifications
5 submitters2 publications

Cataract 38; Mitochondrial disease; Sengers syndrome; Cataract 38;Sengers syndrome; Inborn genetic diseases

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About AGK

The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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