rs774925473
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
|
28008555 |
2017 |
rs774925473
|
|
Ataxia Telangiectasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Ataxia telangiectasia: more variation at clinical and cellular levels.
|
25040471 |
2015 |
rs774925473
|
|
Ataxia Telangiectasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
|
21792198 |
2011 |
rs774925473
|
|
Ataxia Telangiectasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Transposable elements in disease-associated cryptic exons.
|
19823873 |
2010 |
rs774925473
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Transposable elements in disease-associated cryptic exons.
|
19823873 |
2010 |
rs774925473
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.
|
15174027 |
2004 |
rs774925473
|
|
Ataxia Telangiectasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.
|
15174027 |
2004 |
rs774925473
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.
|
11382771 |
2001 |
rs774925473
|
|
Ataxia Telangiectasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.
|
11382771 |
2001 |
rs774925473
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
|
10330348 |
1999 |
rs774925473
|
|
Ataxia Telangiectasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.
|
10234507 |
1999 |
rs774925473
|
|
Ataxia Telangiectasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
|
10330348 |
1999 |
rs774925473
|
|
Ataxia Telangiectasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
|
9463314 |
1998 |
rs774925473
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
|
9463314 |
1998 |
rs774925473
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutations associated with variant phenotypes in ataxia-telangiectasia.
|
8755918 |
1996 |
rs774925473
|
|
Ataxia Telangiectasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutations associated with variant phenotypes in ataxia-telangiectasia.
|
8755918 |
1996 |
rs774925473
|
|
Ataxia Telangiectasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
|
8808599 |
1996 |
rs774925473
|
|
Ataxia-Telangiectasia Variant
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|