Gene: SLC3A1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon. 28646536

2017
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Clinical and genetic analysis of patients with cystinuria in the United Kingdom. 25964309

2015
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. 25296721

2015
dbSNP: rs121912691
rs121912691
SLC3A1
A 0.840 CausalMutation CLINVAR Molecular characterization of cystinuria in south-eastern European countries. 23532419

2013
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Molecular characterization of cystinuria in south-eastern European countries. 23532419

2013
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. 21255007

2012
dbSNP: rs121912691
rs121912691
SLC3A1
A 0.840 CausalMutation CLINVAR Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes. 21677404

2011
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes. 21677404

2011
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype. 18332091

2008
dbSNP: rs121912691
rs121912691
SLC3A1
A 0.840 CausalMutation CLINVAR Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype. 18332091

2008
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Type I cystinuria and its genetic basis in a population of Turkish school children. 17880288

2007
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Analysis of a 1-year-old cystinuric patient with recurrent renal stones. 17010017

2006
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. 16138908

2005
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 15635077

2005
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR 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. 15691362

2005
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria. 14991253

2004
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. 12234283

2002
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. 11748844

2001
dbSNP: rs121912691
rs121912691
SLC3A1
A 0.840 CausalMutation CLINVAR An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K. 9083097

1997
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K. 9083097

1997
dbSNP: rs121912691
rs121912691
SLC3A1
A 0.840 CausalMutation CLINVAR Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. 8792820

1996
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. 8792820

1996
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. 7573036

1995
dbSNP: rs121912691
rs121912691
SLC3A1
C 0.840 CausalMutation CLINVAR Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. 8054986

1994
dbSNP: rs121912691
rs121912691
SLC3A1
A 0.840 CausalMutation CLINVAR Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. 8054986

1994