|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized.
|
12552566 |
2003 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
ATM is usually rearranged in T-cell prolymphocytic leukaemia.
|
9488043 |
1998 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
|
22529920 |
2012 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
|
18573109 |
2008 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Mantle cell lymphoma is characterized by inactivation of the ATM gene.
|
10706620 |
2000 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Functional consequences of ATM sequence variants for chromosomal radiosensitivity.
|
15101044 |
2004 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
|
21459046 |
2011 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Biallelic mutations in the ATM gene in T-prolymphocytic leukemia.
|
9334731 |
1997 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
|
9872980 |
1998 |
|
rs876659365
|
|
Ataxia Telangiectasia
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
|
9887333 |
1999 |
|
rs876659365
|
|
Ataxia Telangiectasia
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
|
19691550 |
2009 |
|
rs876659365
|
|
Ataxia Telangiectasia
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
|
21665257 |
2011 |
|
rs786202826
|
|
Ataxia Telangiectasia
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs587782202
|
|
Ataxia Telangiectasia
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.
|
11805335 |
2002 |
|
rs587781302
|
|
Ataxia Telangiectasia
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs587779872
|
|
Ataxia Telangiectasia
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Neuropathology in classical and variant ataxia-telangiectasia.
|
22017321 |
2012 |
|
rs587779872
|
|
Ataxia Telangiectasia
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
rs587779872
|
|
Ataxia Telangiectasia
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
|
rs587779872
|
|
Ataxia Telangiectasia
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
|
10873394 |
2000 |
|
rs587779872
|
|
Ataxia Telangiectasia
|
T |
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
|
|
Ataxia Telangiectasia
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
|
rs28904921
|
|
Ataxia Telangiectasia
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
Attenuated presentation of ataxia-telangiectasia with familial cancer history.
|
18575927 |
2008 |
|
rs28904921
|
|
Ataxia Telangiectasia
|
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 |