rs114057553
This variant is located in the ATP13A2 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitterAbout ATP13A2
This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
View all ATP13A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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