rs786202760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.
|
20639400 |
2010 |
rs786202760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
|
16116424 |
2005 |
rs786202760
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
|
16116423 |
2005 |
rs786202760
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs786202760
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137852986
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
|
29368626 |
2018 |
rs780020495
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
|
29368626 |
2018 |
rs786203717
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
|
29368626 |
2018 |
rs876659533
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
|
29368626 |
2018 |
rs1257401983
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.
|
28961279 |
2017 |
rs587780226
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.
|
28495237 |
2017 |
rs730881633
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.
|
28495237 |
2017 |
rs786203717
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.
|
28423363 |
2017 |
rs1057519365
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
|
27165003 |
2016 |
rs137852986
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
FANCJ is essential to maintain microsatellite structure genome-wide during replication stress.
|
27179029 |
2016 |
rs137852986
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
|
26921362 |
2016 |
rs137852986
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
|
26921362 |
2016 |
rs137852986
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
|
26822949 |
2016 |
rs137852986
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs149364097
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutational analysis of FANCJ helicase.
|
27107905 |
2016 |
rs587778134
|
|
CAA |
0.700 |
CausalMutation |
CLINVAR |
Improving performance of multigene panels for genomic analysis of cancer predisposition.
|
26845104 |
2016 |
rs587778134
|
|
CAA |
0.700 |
GeneticVariation |
CLINVAR |
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
|
26921362 |
2016 |
rs587778134
|
|
CAA |
0.700 |
GeneticVariation |
CLINVAR |
Improving performance of multigene panels for genomic analysis of cancer predisposition.
|
26845104 |
2016 |
rs587778134
|
|
CAA |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs587778134
|
|
CAA |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |