rs80357327
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Structure of a BRCA1-BARD1 heterodimeric RING-RING complex.
|
11573085 |
2001 |
rs80357327
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.
|
18465347 |
2008 |
rs80357327
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of BRCA1 ring finger variants of uncertain significance.
|
19543972 |
2010 |
rs80357327
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
|
20104584 |
2010 |
rs80357327
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer.
|
20437199 |
2010 |
rs80357327
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.
|
21520273 |
2011 |
rs80357327
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
|
21990134 |
2012 |
rs80357327
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.
|
21990165 |
2012 |
rs80357327
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.
|
24489791 |
2014 |
rs80357327
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
|
25348012 |
2014 |
rs80357327
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.
|
25823446 |
2015 |
rs80357327
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.
|
26833046 |
2016 |