rs765471424

This is a splice region variant variant in the AGK gene.

▶

ClinVar annotation

Pathogenic★☆☆☆
3 submitters3 publications

AGK-related disorder; Cataract 38; Sengers syndrome

View on ClinVar →

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]

View all AGK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…