Variant: rs121909379 

    present in Gene: SLC12A3
    present in Chromosome: 16
    Position on Chromosome: 56894558
    Alleles of this Variant: T/C

rs121909379 in SLC12A3 gene and Gitelman Syndrome PMID 16429844 2006 A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome.

PMID 17873326 2007 Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.

PMID 8528245 1996 Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.

PMID 8954067 1996 Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome.

PMID 17654016 2007 Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.

PMID 9734597 1998 Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.

PMID 21343949 2011 Clinical utility gene card for: Gitelman syndrome.

PMID 26099046 2015 Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter.

PMID 22009145 2012 Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

PMID 10988270 2000 Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.

PMID 11168953 2001 Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.

PMID 10616841 2000 Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.

PMID 11940055 2002 Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome.

PMID 15069170 2004 Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 15687331 2005 Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.

PMID 8900229 1996 Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.

PMID 12008755 2002 Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.

PMID 12112667 2002 Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.