rs763230511

This variant is located in the AMBRA1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About AMBRA1

Enables enzyme binding activity; protein phosphatase activator activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including macroautophagy; positive regulation of free ubiquitin chain polymerization; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cytosol. Part of Cul4-RING E3 ubiquitin ligase complex. Is active in cytoskeleton; mitochondrion; and nucleus. Biomarker of multiple system atrophy. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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