SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
Disease: Gitelman Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777815715
rs777815715
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.010 GeneticVariation BEFREE We have investigated the mechanisms by which a novel missense point mutation (c.1181G>A) found in two sisters causes Gitelman's syndrome by impairing the sodium chloride co-transporter (NCC, encoded by SLC12A3 gene) function. 29925901 2018