Variant: rs137852759

present in Gene: MRE11 present in Chromosome: 11 Position on Chromosome: 94437206 Alleles of this Variant: G/A;C;T

rs137852759 in MRE11 gene and Ataxia-Telangiectasisa-Like Disorder 1 PMID 10612394 1999 The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.

PMID 22863007 2012 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

PMID 14690604 2003 Checkpoint failure and chromosomal instability without lymphomagenesis in Mre11(ATLD1/ATLD1) mice.

PMID 8445618 1993 A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.

PMID 25040471 2015 Ataxia telangiectasia: more variation at clinical and cellular levels.

PMID 19383352 2008 Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene.

rs137852759 in MRE11 gene and Neoplastic Syndromes, Hereditary PMID 19383352 2008 Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene.

PMID 23912341 2013 Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.

PMID 16038621 2005 Molecular basis of ataxia telangiectasia and related diseases.

PMID 22863007 2012 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

PMID 10612394 1999 The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.