rs564652222
|
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genotype/phenotype relationships were compared: three deleterious missense variants were associated with an increased risk of cancer (c.6679C>T, c.7271T>G, and c.8494C>T).
|
18634022 |
2009 |
rs564652222
|
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genotype/phenotype relationships were compared: three deleterious missense variants were associated with an increased risk of cancer (c.6679C>T, c.7271T>G, and c.8494C>T).
|
18634022 |
2009 |
rs564652222
|
|
Ataxia Telangiectasia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
|
18634022 |
2009 |
rs564652222
|
|
Ataxia Telangiectasia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Comprehensive scanning of the ATM gene with DOVAM-S.
|
12552559 |
2003 |
rs564652222
|
|
Ataxia Telangiectasia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.
|
15843990 |
2005 |
rs564652222
|
|
Ataxia Telangiectasia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Isolated generalized dystonia in biallelic missense mutations of the ATM gene.
|
23640770 |
2013 |
rs564652222
|
|
Ataxia Telangiectasia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Different clinical and immunological presentation of ataxia-telangiectasia within the same family.
|
18504682 |
2008 |
rs564652222
|
|
Ataxia Telangiectasia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.
|
16380133 |
2006 |
rs564652222
|
|
Ataxia Telangiectasia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
|
19691550 |
2009 |
rs564652222
|
|
Ataxia Telangiectasia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Newborn screening for SCID identifies patients with ataxia telangiectasia.
|
23264026 |
2013 |
rs564652222
|
|
Ataxia Telangiectasia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
|
22213089 |
2012 |
rs564652222
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive scanning of the ATM gene with DOVAM-S.
|
12552559 |
2003 |
rs564652222
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
|
18634022 |
2009 |
rs564652222
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.
|
15843990 |
2005 |
rs564652222
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
|
22529920 |
2012 |
rs564652222
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
|
9887333 |
1999 |
rs564652222
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
rs564652222
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Functional consequences of ATM sequence variants for chromosomal radiosensitivity.
|
15101044 |
2004 |
rs564652222
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Isolated generalized dystonia in biallelic missense mutations of the ATM gene.
|
23640770 |
2013 |
rs564652222
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
|
10873394 |
2000 |
rs564652222
|
|
Malignant neoplasm of breast
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs564652222
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.
|
16380133 |
2006 |
rs564652222
|
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
|
20050888 |
2010 |
rs564652222
|
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
|
24418350 |
2014 |