rs118203434
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.
28065512
2017
rs118203631
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.
29221145
2017
rs118203631
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Those include hamartin(R692X ) and hamartin(R786X), stop mutants frequent in TSC patients and hamartin(H732Y) frequent in FCDIIb.
27425891
2016
rs118203631
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
27494029
2016
rs118203631
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature.
26231267
2015
rs118203631
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals.
24633152
2014
rs118203631
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.
20547222
2010
rs118203631
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
18830229
2009
rs118203631
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
16981987
2006
rs118203434
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.
15121797
2004
rs118203434
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
11112665
2001
rs118203434
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.
10533066
1999
rs118203434
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
10363127
1998
rs118203631
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
A
0.700
CausalMutation
CLINVAR
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
9242607
1997
rs1064794132
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
T
0.700
GeneticVariation
CLINVAR
rs1554815914
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
GC
0.700
GeneticVariation
CLINVAR
rs537585211
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
0.010
GeneticVariation
BEFREE
Finally, phosphorylation defective TSC2 mutants (S932A and S939A single mutants and a S932A/S939A double mutant) failed to upregulate mTORC1 activity in the presence of translation inhibitors, suggesting that activation of mTORC1 by translation inhibitors is mediated by PKC-δ phosphorylation of TSC2 at S932/S939, which inactivates TSC .
30684133
2019
rs118203673
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
0.010
GeneticVariation
BEFREE
A heterozygous nonsense TSC1 mutation g.132902703C>T (c.2293C>T , p.Gln765Ter ) was identified in a patient with TSC and KC.
29261847
2017
rs185159716
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
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
rs865808591
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
0.010
GeneticVariation
BEFREE
Here, we report a pathogenic TSC2 variant, c.1864C>T , p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC .
28211972
2017
rs118203542
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
Tuberous Sclerosis
0.010
GeneticVariation
BEFREE
This is the first report of TSC1 R509X mutation in a Chinese family, which might deepen our insight into the clinical and molecular pathogenesis of tuberous sclerosis complex .
25900779
2015
rs1301051974
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
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