DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs80357064 ×

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:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

25823446

2015

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Patterns and functional implications of rare germline variants across 12 cancer types.

26689913

2015

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Functional isogenic modeling of BRCA1 alleles reveals distinct carrier phenotypes.

26246475

2015

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Deleterious BRCA1/2 mutations in an urban population of Black women.

26250392

2015

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.

24516540

2014

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.

23161852

2013

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

A high-throughput functional complementation assay for classification of BRCA1 missense variants.

23867111

2013

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.

21523855

2011

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.

21523855

2011

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.

20103620

2010

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 genetic test in high risk patients and families: counselling and management.

21042765

2010

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg).

19287957

2009

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg).

19287957

2009

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.

16403807

2006

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.

12915465

2003

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Variation in BRCA1 cancer risks by mutation position.

11927492

2002

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Detection of germline mutations in the BRCA1 gene by RNA-based sequencing.

11462239

2001

dbSNP:

rs80357064

BRCA1

0.700

CausalMutation

CLINVAR

Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.

7894491

1994