Variant: rs147623570 

    present in Gene: CA5A
    present in Chromosome: 16
    Position on Chromosome: 87902425
    Alleles of this Variant: C/T

rs147623570 in CA5A gene and CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO PMID 24530203 2014 Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.