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: rs148038173
rs148038173
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation BEFREE However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G>C), providing the molecular diagnosis of GS. 17059986 2006
dbSNP: rs148038173
rs148038173
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.710 GeneticVariation UNIPROT