rs137852761
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Interestingly, the 1714C-->T mutation is the same as previously identified in an unrelated English ATLD family (probands ATLD3 and ATLD4), suggesting an important role for NMD in saving potentially lethal mutations.
|
15269180 |
2004 |
rs137852761
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs759130031
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
|
29348823 |
2017 |
rs774277300
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
|
27329137 |
2016 |
rs774277300
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
|
25452441 |
2015 |
rs371077728
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
|
24763289 |
2014 |
rs587781384
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
|
24763289 |
2014 |
rs759130031
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.
|
23912341 |
2013 |
rs759130031
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair.
|
23080121 |
2012 |
rs759130031
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.
|
21227757 |
2011 |
rs878854776
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.
|
11371508 |
2001 |
rs878854776
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
|
10612394 |
1999 |
rs137852760
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs587781442
|
|
TGAAGTGGTAGGAAAAATGTC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs780001540
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs786203931
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137852763
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This is the biggest ATLD group of patients that may suggest noticeable heterozygous carriers of G630C mutation in the general population.
|
18652530 |
2008 |
rs137852763
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Saccadic dysfunction without head thrusts and convergence abnormality are common in ATLD secondary to homozygous W210C MRE11 mutation.
|
18083591 |
2008 |
rs143026800
|
|
|
0.010 |
GeneticVariation |
BEFREE |
W248R differs from other ataxia telangiectasia-like disorder analog alleles by the reduced stability of its interaction with Rad50 in cell lysates.
|
23080121 |
2012 |
rs749918573
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, the 1714C-->T mutation is the same as previously identified in an unrelated English ATLD family (probands ATLD3 and ATLD4), suggesting an important role for NMD in saving potentially lethal mutations.
|
15269180 |
2004 |