rs80358042
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs80358042
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families.
|
8533757 |
1995 |
rs80358042
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
BRCA1 and BRCA2 in Indian breast cancer patients.
|
12442273 |
2002 |
rs80358042
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
|
16267036 |
2005 |
rs80358042
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
|
20215541 |
2010 |
rs80358042
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
|
21735045 |
2012 |
rs80358042
|
|
T |
0.700 |
CausalMutation |
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 |
rs80358042
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prediction of mutant mRNA splice isoforms by information theory-based exon definition.
|
23348723 |
2013 |
rs80358042
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
|
23479189 |
2013 |
rs80358042
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs80358042
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs80358042
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer.
|
28176296 |
2017 |
rs80358042
|
|
T |
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 |
rs80358042
|
|
A |
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 |