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: rs1301051974
rs1301051974
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		0.010 GeneticVariation BEFREE We report an infant who presented with seizures and cardiac rhabdomyomas and whose diagnosis of TS was confirmed by a TSC2 C1605T nonsense mutation. 21418539 2011