DisGeNET - a database of gene-disease associations

TUBEROUS SCLEROSIS 2 (disorder), C1860707

Variant: rs45469298 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs45469298

TSC2

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

dbSNP:

rs45469298

TSC2

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs45469298

TSC2

0.800

CausalMutation

CLINVAR

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

26540169

2015

dbSNP:

rs45469298

TSC2

0.800

CausalMutation

CLINVAR

Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.

22867869

2013

dbSNP:

rs45469298

TSC2

0.800

GeneticVariation

UNIPROT

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

23519317

2013

dbSNP:

rs45469298

TSC2

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs45469298

TSC2

0.800

CausalMutation

CLINVAR

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

17304050

2007

dbSNP:

rs45469298

TSC2

0.800

CausalMutation

CLINVAR

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.

15483652

2005

dbSNP:

rs45469298

TSC2

0.800

CausalMutation

CLINVAR

Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.

15963462

2005

dbSNP:

rs45469298

TSC2

0.800

CausalMutation

CLINVAR

Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

15595939

2005

dbSNP:

rs45469298

TSC2

0.800

CausalMutation

CLINVAR

TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.

12111193

2002

dbSNP:

rs45469298

TSC2

0.800

CausalMutation

CLINVAR

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.

11741832

2001

dbSNP:

rs45469298

TSC2

0.800

CausalMutation

CLINVAR

Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

10735580

1999

dbSNP:

rs45469298

TSC2

0.800

CausalMutation

CLINVAR

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

10205261

1999

dbSNP:

rs45469298

TSC2

0.800

CausalMutation

CLINVAR

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

9463313

1998

dbSNP:

rs45469298

TSC2

0.800

CausalMutation

CLINVAR

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

8824881

1996