Variant: rs118203434 

    present in Gene: TSC1
    present in Chromosome: 9
    Position on Chromosome: 132921367
    Alleles of this Variant: G/A

rs118203434 in TSC1 gene and Neoplastic Syndromes, Hereditary PMID 27470532 2016 Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth.

PMID 10363127 1998 Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.

PMID 15798777 2005 Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

PMID 10533066 1999 Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.

PMID 17304050 2007 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

rs118203434 in TSC1 gene and TUBEROUS SCLEROSIS 1 (disorder) PMID 10363127 1998 Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.

PMID 28968464 2017 Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

PMID 22791573 2013 Molecular genetic, cardiac and neurodevelopmental findings in cases of prenatally diagnosed rhabdomyoma associated with tuberous sclerosis complex.

rs118203434 in TSC1 gene and Tuberous Sclerosis PMID 10363127 1998 Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.

PMID 11112665 2001 Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

PMID 28065512 2017 Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.

PMID 15121797 2004 Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.

PMID 10533066 1999 Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.