rs587782292
|
|
|
0.810 |
GeneticVariation |
BEFREE |
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 |
rs587776551
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The c.3576G>A (p.K1192=) was the most common homozygous pathogenic ATM variant (33.33%) that was associated with milder phenotype of ataxia telangiectasia (AT) with the onset of age of 3.
|
31741144 |
2020 |
rs587776551
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Compared with 51 patients with classic A-T from the Dutch cohort, patients with <i>ATM</i> c.3576G>A had a longer survival and were less likely to develop cancer, respiratory disease or immunodeficiency.
|
30819809 |
2019 |
rs587779852
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The Mennonite mutation, 5932 G>T, is common in Russian A-T families, and the STR haplovariants are the same in both Poland and Russia.
|
16266405 |
2005 |
rs587779852
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We now report that a nonsense mutation, p.E1978X (c.5932G>T), is both a classical A-T mutation and a breast cancer susceptibility allele in Eastern European populations.
|
18807267 |
2009 |
rs587779815
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In this study, we report a founder effect of AT with two different mutations: 1339 C > T and 6672 del GG together with 6677 del TACG, found in four Israeli Druze clans originating from three different Druze centers in the Middle East (Lebanon, Syria and Jordan).
|
15164409 |
2004 |
rs587782652
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The oldest patient with A-T reported so far was a 78-year-old patient who was compound heterozygous for <i>ATM</i> c.8147T>C.
|
30819809 |
2019 |
rs770641163
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The sibling with ataxia telangiectasia revealed a homozygous p.Arg2993Stop (c.8977C>T) null mutation in the ATM gene.
|
30339652 |
2019 |
rs2234997
|
|
|
0.010 |
GeneticVariation |
BEFREE |
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 |
rs376676328
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, 8734A>G (Arg2912Gly) associated previously with breast cancer susceptibility and suggested to be causative also for A-T was detected in 2/541 of familial cases, but not in unselected cases (0/1124) or controls (0/1107).
|
17166884 |
2007 |
rs730881394
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a woman with variant AT with two novel mutations in ATM (IVS14+2T>G and 5825C>T, p.A1942V) who died at age 48 with pancreatic adenocarcinoma.
|
24090759 |
2013 |