rs1569304938

This variant is located in the SLC5A1 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Congenital glucose-galactose malabsorption

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About SLC5A1

This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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