rs147670744

This variant is located in the MVB12A gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About MVB12A

Enables lipid binding activity and ubiquitin binding activity. Involved in regulation of epidermal growth factor receptor signaling pathway. Located in several cellular components, including centrosome; cytosol; and vesicle. Part of ESCRT I complex. [provided by Alliance of Genome Resources, Apr 2025]

View all MVB12A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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