TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Tuberous Sclerosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203434
rs118203434
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. 28065512 2017
dbSNP: rs118203434
rs118203434
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis. 15121797 2004
dbSNP: rs118203434
rs118203434
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 11112665 2001
dbSNP: rs118203434
rs118203434
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects. 10533066 1999
dbSNP: rs118203434
rs118203434
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. 10363127 1998