TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203728
rs118203728
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. 12015165 2002
dbSNP: rs118203728
rs118203728
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients. 9803264 1998