rs121908856

This is a variant in the SLC4A4 gene that changes a arginine to an serine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Autosomal recessive proximal renal tubular acidosis (PRTAO)

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About SLC4A4

This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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