rs886059595

This variant is located in the SLC4A4 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Autosomal recessive proximal renal tubular acidosis

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]

View all SLC4A4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…