Variant: rs121912691 

    present in Gene: SLC3A1
    present in Chromosome: 2
    Position on Chromosome: 44312653
    Alleles of this Variant: T/A;C

rs121912691 in SLC3A1 gene and Cystinuria PMID 17010017 2006 Analysis of a 1-year-old cystinuric patient with recurrent renal stones.

PMID 21863055 2012 Clinical utility gene card for: Cystinuria.

PMID 23532419 2013 Molecular characterization of cystinuria in south-eastern European countries.

PMID 11748844 2001 Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.

PMID 12234283 2002 Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

PMID 15691362 2005 Association analyses revealed that 231T > A (M467T), 1136 + 3delT and 1332 + 7T > C genetic variants were statistically related with urinary amino acid excretion in cystinuria patients.

PMID 15635077 2005 New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

PMID 7575432 1995 Mutations of the basic amino acid transporter gene associated with cystinuria.

PMID 8054986 1994 Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.

PMID 7573036 1995 Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

PMID 19782624 2010 Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

PMID 18332091 2008 Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype.

PMID 9083097 1997 An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K.

PMID 14991253 2004 The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.

PMID 21677404 2011 Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.

PMID 17880288 2007 Type I cystinuria and its genetic basis in a population of Turkish school children.

PMID 16138908 2005 Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

PMID 21255007 2012 Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.

PMID 10738006 2000 Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics.

PMID 8792820 1996 Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.

PMID 16609684 2006 A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

PMID 9186880 1997 Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.

PMID 28646536 2017 Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

PMID 25296721 2015 Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

PMID 7539209 1995 Mutations in the SLC3A1 transporter gene in cystinuria.

PMID 25964309 2015 Clinical and genetic analysis of patients with cystinuria in the United Kingdom.