rs749888579
This variant is located in the BCAT2 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout BCAT2
This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
View all BCAT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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