rs2131030184
This variant is located in the VPS13A gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout VPS13A
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
View all VPS13A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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