This mutation is located in gene LOC126807073, SLC4A4 (MED14-independent group 3 enhancer GRCh37_chr4:72338203-72339402| solute carrier family 4 member 4) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Autosomal recessive proximal renal tubular acidosis