rs587782292
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.
|
26094658 |
2015 |
rs587782292
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
ATM is usually rearranged in T-cell prolymphocytic leukaemia.
|
9488043 |
1998 |
rs587782292
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
|
9872980 |
1998 |
rs121434216
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
rs121434216
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Mutations associated with variant phenotypes in ataxia-telangiectasia.
|
8755918 |
1996 |
rs121434216
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Analysis of the ATM protein in wild-type and ataxia telangiectasia cells.
|
9000145 |
1996 |
rs121434216
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Ataxia telangiectasia: more variation at clinical and cellular levels.
|
25040471 |
2015 |
rs28904921
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
The kinetics of p53 response was intermediate between normal and classical ataxia telangiectasia cells in both the 7271T-->G and 5762ins137 cells, but interestingly, c-Jun kinase activation following DNA damage was equally deficient in cell lines derived from all the ataxia telangiectasia patients.
|
11382771 |
2001 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
The kinetics of p53 response was intermediate between normal and classical ataxia telangiectasia cells in both the 7271T-->G and 5762ins137 cells, but interestingly, c-Jun kinase activation following DNA damage was equally deficient in cell lines derived from all the ataxia telangiectasia patients.
|
11382771 |
2001 |
rs28904921
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Mutations associated with variant phenotypes in ataxia-telangiectasia.
|
8755918 |
1996 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Dominant negative ATM mutations in breast cancer families.
|
11830610 |
2002 |
rs28904921
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
|
18634022 |
2009 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
|
22529920 |
2012 |
rs28904921
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
|
27595995 |
2016 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Rare variants in the ATM gene and risk of breast cancer.
|
21787400 |
2011 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Mutations associated with variant phenotypes in ataxia-telangiectasia.
|
8755918 |
1996 |
rs28904921
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=.
|
9463314 |
1998 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=.
|
9463314 |
1998 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Attenuated presentation of ataxia-telangiectasia with familial cancer history.
|
18575927 |
2008 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.
|
17001622 |
2006 |
rs28904921
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Attenuated presentation of ataxia-telangiectasia with familial cancer history.
|
18575927 |
2008 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |