rs772234940

This variant is located in the ATG14 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ATG14

Enables GTPase binding activity; phosphatidylinositol 3-kinase inhibitor activity; and protein-membrane adaptor activity. Involved in several processes, including early endosome to late endosome transport; macroautophagy; and phosphatidylinositol 3-kinase/protein kinase B signal transduction. Acts upstream of or within endosome to lysosome transport. Located in autophagosome and phagophore assembly site membrane. Is extrinsic component of omegasome membrane and extrinsic component of phagophore assembly site membrane. Part of phosphatidylinositol 3-kinase complex, class III. Is active in phagophore assembly site. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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