SLC5A2, solute carrier family 5 member 2, 6524

N. diseases: 214; N. variants: 20
Disease: Familial renal glucosuria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1306939757
rs1306939757
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C3245525
Disease:
Familial renal glucosuria 		0.010 GeneticVariation BEFREE Clinical and genetic analysis in a family with familial renal glucosuria: Identification of an N101K mutation in the sodium-glucose cotransporter 2 encoded by a solute carrier family 5 member 2 gene. 31584752 2019
dbSNP: rs565909305
rs565909305
Entrez Id: 6524;64755
Gene Symbol: SLC5A2;C16orf58
SLC5A2;C16orf58
CUI: C3245525
Disease:
Familial renal glucosuria 		0.010 GeneticVariation BEFREE The novel compound heterozygous mutation (c.514T>C, p.W172R; c.1540C>T, p.P514S) of the SLC5A2 gene may be responsible for the onset of FRG. 30942416 2019