rs886040914
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs886040913
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs80358345
|
|
Neoplastic Syndromes, Hereditary
|
T |
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 |
rs80358345
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.
|
25136594 |
2014 |
rs80358345
|
|
Neoplastic Syndromes, Hereditary
|
T |
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 |
rs80358345
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.
|
12955719 |
2003 |
rs80358189
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs80358158
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs80358152
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs80358131
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs80358116
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs80358108
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs80358096
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs80358089
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs80358087
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
|
16619214 |
2006 |
rs80358087
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site.
|
10406662 |
1999 |
rs80358087
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
|
23451180 |
2013 |
rs80358087
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.
|
18693280 |
2009 |
rs80358087
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.
|
21203900 |
2011 |
rs80358087
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
|
23239986 |
2012 |
rs80358086
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs80358082
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs80358079
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs80358073
|
|
Neoplastic Syndromes, Hereditary
|
G |
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 |
rs80358073
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.
|
9354803 |
1997 |