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: rs185159716
rs185159716
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		0.010 GeneticVariation BEFREE In total, 4 missense mutations were found in 3 patients with TC/AC, including mutations in exon 48 of mTOR (c.6667C>T), exon 21 of tuberous sclerosis complex (TSC) 1 (c.2765G>A), and exons 12 (c.1265C>T) and 19 (c.2148C>T) of TSC2. 28789352 2017