KEGG   VARIANT: 7248v2
Entry
7248v2                      Variant                                
Name
TSC1 mutation
Type
Loss of function
Gene
TSC1  TSC complex subunit 1 [KO:K07206]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation Q145*
ClinVar: 49041
Network
nt06522  mTOR signaling
Disease
H01691  Renal angiomyolipoma
H01692  Subependymal giant cell astrocytoma
Reference
  Authors
Jiangyi W, Gang G, Guohai S, Dingwei Y
  Title
Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.
  Journal
Aging (Albany NY) 12:756-766 (2020)
DOI:10.18632/aging.102654
Reference
  Authors
Fohlen M, Harzallah I, Polivka M, Giuliano F, Pons L, Streichenberger N, Dorfmuller G, Touraine R
  Title
Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing  technology.
  Journal
Childs Nerv Syst 36:961-965 (2020)
DOI:10.1007/s00381-020-04551-4
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