rs45507199
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
|
10732801 |
1998 |
rs45507199
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism.
|
16237225 |
2005 |
rs45507199
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
|
16114042 |
2005 |
rs45507199
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
|
16981987 |
2006 |
rs45507199
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
|
17304050 |
2007 |
rs45507199
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A reliable cell-based assay for testing unclassified TSC2 gene variants.
|
18854862 |
2009 |
rs45507199
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
|
20165957 |
2010 |
rs45507199
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
|
21309039 |
2011 |
rs45507199
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs45507199
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs45507199
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
|
22867869 |
2013 |
rs45507199
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs45507199
|
|
|
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 |