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rs659243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0
Make rs659243(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position108312440
GeneATM
is asnp
is mentioned by
dbSNPrs659243
ebirs659243
HLIrs659243
Exacrs659243
Varsomers659243
Maprs659243
PheGenIrs659243
hapmaprs659243
1000 genomesrs659243
hgdprs659243
ensemblrs659243
gopubmedrs659243
geneviewrs659243
scholarrs659243
googlers659243
pharmgkbrs659243
gwascentralrs659243
openSNPrs659243
23andMers659243
23andMe allrs659243
SNP Nexus

SNPshotrs659243
SNPdbers659243
MSV3drs659243
GWAS Ctlgrs659243
GMAF0
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ATM
allele G
frequency 1
sift TOLERATED
HuRef 1103649787059
Disease Association Defects in ATM contribute to B-cell chronic lymphocytic leukemia (BCLL). BCLL is the commonest form of leukemia in the elderly. It is characterized by the accumulation of mature CD5+ B lymphocytes, lymphadenopathy, immunodeficiency and bone marrow failure.



GET Evidence
ATM-N1983S
aa_change Asn1983Ser
aa_change_short N1983S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 1
summary



ClinVar
Risk rs659243(G;G)
Alt rs659243(G;G)
Reference rs659243(A;A)
Significance Non-pathogenic
Disease Hereditary cancer-predisposing syndrome not specified
Variation info
Gene C11orf65 ATM
CLNDBN Hereditary cancer-predisposing syndrome not specified
Reversed 0
HGVS NC_000011.9:g.108183167A\x3d; NC_000011.9:g.108183167A>G
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000128947.1, RCV000120149.2,