Variant: rs779869368

present in Gene: CA2 present in Chromosome: 8 Position on Chromosome: 85480685 Alleles of this Variant: A/-

rs779869368 in CA2 gene and OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 PMID 8128957 1994 Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.