rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.
|
15340059 |
2004 |
rs45517259
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase.
|
16464865 |
2006 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
|
15024740 |
2004 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.
|
12271141 |
2002 |
rs45517259
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
|
17120248 |
2006 |
rs45517259
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
|
9829910 |
1998 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
|
15595939 |
2005 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.
|
10069705 |
1999 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
|
9463313 |
1998 |
rs45517259
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.
|
11741832 |
2001 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
|
9302281 |
1997 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
|
9829910 |
1998 |
rs45517259
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
|
15963462 |
2005 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
|
8824881 |
1996 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs45517259
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
|
21309039 |
2011 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
|
15963462 |
2005 |
rs45517259
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
|
25432535 |
2015 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
|
10570911 |
1999 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
|
10533067 |
1999 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs45517259
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
|
22867869 |
2013 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs45517259
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
|
10735580 |
1999 |