DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs398122699 ×

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:

rs398122699

BRCA1

0.700

GeneticVariation

CLINVAR

Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.

26028024

2016

dbSNP:

rs398122699

BRCA1

0.700

GeneticVariation

CLINVAR

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

15133503

2004

dbSNP:

rs398122699

BRCA1

0.700

GeneticVariation

CLINVAR

The BRCT domain is a phospho-protein binding domain.

14576433

2003