rs397514800
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
TUBEROUS SCLEROSIS 1 (disorder)
0.700
GeneticVariation
UNIPROT
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.
10533069
1999
rs397514800
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
TUBEROUS SCLEROSIS 1 (disorder)
0.700
GeneticVariation
UNIPROT
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
18830229
2009
rs397514800
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
TUBEROUS SCLEROSIS 1 (disorder)
0.700
GeneticVariation
UNIPROT
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
25394175
2015
rs397514800
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
TUBEROUS SCLEROSIS 1 (disorder)
0.700
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs397514800
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
TUBEROUS SCLEROSIS 1 (disorder)
0.700
GeneticVariation
UNIPROT
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
10227394
1999
rs397514800
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
TUBEROUS SCLEROSIS 1 (disorder)
0.700
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs397514800
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
TUBEROUS SCLEROSIS 1 (disorder)
0.700
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs397514800
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
TUBEROUS SCLEROSIS 1 (disorder)
0.700
GeneticVariation
UNIPROT
Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE.
10874311
2000
rs397514800
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
TUBEROUS SCLEROSIS 1 (disorder)
0.700
GeneticVariation
UNIPROT
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
10570911
1999
rs397514800
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
TUBEROUS SCLEROSIS 1 (disorder)
0.700
GeneticVariation
UNIPROT
Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.
11829138
2002
rs397514800
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
TUBEROUS SCLEROSIS 1 (disorder)
0.700
GeneticVariation
UNIPROT
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
22161988
2012
rs397514800
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
TUBEROUS SCLEROSIS 1 (disorder)
0.700
GeneticVariation
UNIPROT
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
9328481
1997
rs397514800
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
TUBEROUS SCLEROSIS 1 (disorder)
0.700
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