rs118203434
|
|
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
|
|
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
|
|
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
|
|
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
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature.
|
26231267 |
2015 |
rs118203631
|
|
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
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.
|
20547222 |
2010 |
rs118203631
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
|
18830229 |
2009 |
rs118203631
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
|
16981987 |
2006 |
rs118203434
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.
|
15121797 |
2004 |
rs118203434
|
|
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
|
|
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
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
|
10363127 |
1998 |
rs118203631
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
|
9242607 |
1997 |
rs1064794132
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554815914
|
|
GC |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs537585211
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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 |