rs80357064
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.
|
7894491 |
1994 |
rs80357064
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.
|
20103620 |
2010 |
rs80357064
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.
|
12915465 |
2003 |
rs80357064
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.
|
25823446 |
2015 |
rs80357064
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Patterns and functional implications of rare germline variants across 12 cancer types.
|
26689913 |
2015 |
rs80357064
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Functional isogenic modeling of BRCA1 alleles reveals distinct carrier phenotypes.
|
26246475 |
2015 |
rs80357064
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.
|
24516540 |
2014 |
rs80357064
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
BRCA1 and BRCA2 genetic test in high risk patients and families: counselling and management.
|
21042765 |
2010 |
rs80357064
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Detection of germline mutations in the BRCA1 gene by RNA-based sequencing.
|
11462239 |
2001 |
rs80357064
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg).
|
19287957 |
2009 |
rs80357064
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Deleterious BRCA1/2 mutations in an urban population of Black women.
|
26250392 |
2015 |
rs80357064
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Variation in BRCA1 cancer risks by mutation position.
|
11927492 |
2002 |
rs80357064
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.
|
21523855 |
2011 |
rs80357064
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.
|
23161852 |
2013 |
rs80357064
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.
|
21523855 |
2011 |
rs80357064
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg).
|
19287957 |
2009 |
rs80357064
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.
|
16403807 |
2006 |
rs80357064
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |