TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: Intellectual Disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376285784
rs376285784
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE One TSC2 mutation, R505Q, was identified in a patient with intellectual disability, seizures and autistic spectrum disorder but who did not fulfil the diagnostic criteria for TSC. 21407264 2011
dbSNP: rs45517305
rs45517305
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Clinical symptoms of the patient with the S1221X mutation are facial angiofibroma, ungual fibroma, hypomelanotic macules, epilepsy and mental retardation. 10215407 1998