rs267607067
This variant is located in the SLC5A2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuriaCase reportN=1Joaquim Calado et al.(2004)· Human Genetics
Novel compound heterozygous mutations in SLC5A2 identified in a 41-year-old patient with familial renal glucosuria: a frameshift mutation (c.500delA, p.Q167fsX186) and a missense mutation (c.1961A>G, p.N654S). This case confirms that SLC5A2 gene mutations cause autosomal recessive renal glucosuria and identifies new pathogenic variants distinct from previously reported homozygous mutations.
About SLC5A2
This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015]
View all SLC5A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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