Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782847
rs587782847
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

2017
dbSNP: rs587782847
rs587782847
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity. 17923702

2007
dbSNP: rs587782847
rs587782847
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions. 16941484

2006
dbSNP: rs587782847
rs587782847
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM. 16603769

2006
dbSNP: rs587782847
rs587782847
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559

2003