rs541347122

This variant is located in the SLC9A3 gene.

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ClinVar annotation

Conflicting Classifications
2 submitters1 publication

not provided; Inborn genetic diseases

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About SLC9A3

The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]

View all SLC9A3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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