DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs397509243 ×

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:

rs397509243

BRCA1

0.700

GeneticVariation

CLINVAR

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

28781887

2016

dbSNP:

rs397509243

BRCA1

0.700

GeneticVariation

CLINVAR

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.

24845084

2014

dbSNP:

rs397509243

BRCA1

0.700

GeneticVariation

CLINVAR

BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.

16644204

2006

dbSNP:

rs397509243

BRCA1

0.700

GeneticVariation

CLINVAR

Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1.

11573086

2001

dbSNP:

rs397509243

BRCA1

0.700

GeneticVariation

CLINVAR

Evaporative water loss in box turtles: effects of rostral brainstem and other temperatures.

1111111

1975