rs41293459
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
|
22889855 |
2012 |
rs41293459
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
|
18036263 |
2007 |
rs41293459
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155.
|
21946536 |
2011 |
rs41293459
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.
|
14534301 |
2003 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.
|
15290653 |
2004 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.
|
16489001 |
2006 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
|
24728189 |
2014 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1.
|
15133503 |
2004 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.
|
27495310 |
2017 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155.
|
21946536 |
2011 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
|
16683254 |
2006 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.
|
11157798 |
2001 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
|
30257991 |
2019 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.
|
30458859 |
2018 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.
|
20455026 |
2010 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
|
28283652 |
2017 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer.
|
11504767 |
2001 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.
|
21473589 |
2011 |
rs41293459
|
|
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 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
|
28490613 |
2018 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic strategy for analytical scanning of BRCA1 gene by fluorescence-assisted mismatch analysis using large, bifluorescently labeled amplicons.
|
11410501 |
2001 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
|
22889855 |
2012 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
|
25452441 |
2015 |
rs41293459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
|
20516115 |
2010 |