rs1555574034
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.
|
22753153 |
2012 |
rs1555599292
|
|
TCAAGGT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1800747
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1800751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
|
22505045 |
2012 |
rs1800751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.
|
21673748 |
2011 |
rs1800751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.
|
23536787 |
2013 |
rs1800751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.
|
29339979 |
2018 |
rs1800751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.
|
27495310 |
2017 |
rs1800751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.
|
15133502 |
2004 |
rs1800751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.
|
20522429 |
2010 |
rs1800751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
|
28781887 |
2016 |
rs1800751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.
|
21447777 |
2011 |
rs1800751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews.
|
17020472 |
2006 |
rs1800751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations.
|
14517958 |
2003 |
rs1800751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.
|
12955716 |
2003 |
rs1800751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Characterization of cancer-linked BRCA1-BRCT missense variants and their interaction with phosphoprotein targets.
|
19452558 |
2009 |
rs273900724
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397507241
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan.
|
24729269 |
2014 |
rs397507241
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.
|
11157798 |
2001 |
rs397507241
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.
|
14534301 |
2003 |
rs397507241
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.
|
11389159 |
2001 |
rs397507241
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain.
|
16528612 |
2006 |
rs397507241
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.
|
15133502 |
2004 |
rs397507241
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.
|
21447777 |
2011 |
rs397507241
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional impact of missense variants in BRCA1 predicted by supervised learning.
|
17305420 |
2007 |