rs200228142
This variant is located in the SLC5A2 gene.
▶ClinVar annotation
Familial renal glucosuria; not provided; See cases; Colorectal cancer
View on ClinVar →▶Research that mentions this SNP (1)
▶Glycogen storage disease type I: diagnosis and phenotype/genotype correlationCase reportN=7Dietrich Matern et al.(2002)· European Journal of Pediatrics
A retrospective case series of 7 pediatric patients with carbohydrate metabolism disorders presenting between August 2023 and February 2024. Diagnoses included glycogen storage disease type I (n=3) with homozygous mutations in G6PC or SLC37A4, classical galactosemia (n=2) with GALT mutations, hereditary fructose intolerance (n=1) with ALDOB mutation, and SGLT2 deficiency (n=1) with SLC5A2 mutation. Presenting features included hepatomegaly (85.7%), hypoglycemia (71.4%), and seizures (28.5%), with treatment primarily involving dietary management.
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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