DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs397509291 ×

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:

rs397509291

BRCA1

0.700

GeneticVariation

CLINVAR

Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.

25652403

2015

dbSNP:

rs397509291

BRCA1

0.700

GeneticVariation

CLINVAR

LOVD v.2.0: the next generation in gene variant databases.

21520333

2011

dbSNP:

rs397509291

BRCA1

0.700

GeneticVariation

CLINVAR

Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer.

19016756

2008

dbSNP:

rs397509291

BRCA1

0.700

GeneticVariation

CLINVAR

Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1.

15133503

2004

dbSNP:

rs397509291

BRCA1

0.700

GeneticVariation

CLINVAR

The BRCT domain is a phospho-protein binding domain.

14576433

2003

dbSNP:

rs397509291

BRCA1

0.700

GeneticVariation

CLINVAR

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

11573086

2001

dbSNP:

rs397509291

BRCA1

0.700

GeneticVariation

CLINVAR

Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation.

10811118

2000