rs80356959
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families.
|
8968102 |
1996 |
rs80356959
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Specific changes in the proteomic pattern produced by the BRCA1-Ser1841Asn missense mutation.
|
17005433 |
2007 |
rs80356959
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.
|
28111427 |
2017 |
rs80356959
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Missense mutations of BRCA1 gene affect the binding with p53 both in vitro and in vivo.
|
16969499 |
2006 |
rs80356959
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Toward classification of BRCA1 missense variants using a biophysical approach.
|
20378548 |
2010 |
rs80356959
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
|
20516115 |
2010 |
rs80356959
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.
|
27741520 |
2016 |
rs80356959
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
|
28781887 |
2016 |
rs80356959
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Classification of BRCA1 missense variants of unknown clinical significance.
|
15689452 |
2005 |
rs80356959
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
|
31131967 |
2019 |
rs80356959
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
rs80356959
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.
|
11802209 |
2002 |