Variant: rs770641163

present in Gene: ATM;C11orf65 present in Chromosome: 11 Position on Chromosome: 108365208 Alleles of this Variant: C/G;T

rs770641163 in ATM;C11orf65 gene and Ataxia Telangiectasia PMID 23322442 2013 Molecular defects in Moroccan patients with ataxia-telangiectasia.

PMID 17124347 2006 DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

PMID 20840352 2011 Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia.

PMID 21933854 2012 ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.

PMID 16238588 2005 Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.

PMID 23774824 2013 A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.

PMID 19691550 2009 Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

PMID 12815592 2003 Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

rs770641163 in ATM;C11orf65 gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 26898890 2016 Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

rs770641163 in ATM;C11orf65 gene and Neoplastic Syndromes, Hereditary PMID 27664052 2017 Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

PMID 28779002 2017 Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

PMID 21933854 2012 ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.

PMID 23322442 2013 Molecular defects in Moroccan patients with ataxia-telangiectasia.

PMID 17124347 2006 DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

PMID 10817650 2000 Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.

PMID 12815592 2003 Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

PMID 9043869 1996 Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.