rs587782444

Merged into

rs587776547

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(TCTAGAATT;TCTAGAATT)	0	common in clinvar

Make rs587782444(-;-)

Make rs587782444(-;TAGAATTTC)

Make rs587782444(TAGAATTTC;TAGAATTTC)

Reference

GRCh38.p2 38.2/147

Chromosome

11

Position

108331887

Gene	ATM, C11orf65

is a	snp
is	mentioned by
dbSNP	rs587782444
dbSNP (classic)	rs587782444
ClinGen	rs587782444
ebi	rs587782444
HLI	rs587782444
Exac	rs587782444
Gnomad	rs587782444
Varsome	rs587782444
LitVar	rs587782444
Map	rs587782444
PheGenI	rs587782444
Biobank	rs587782444
1000 genomes	rs587782444
hgdp	rs587782444
ensembl	rs587782444
geneview	rs587782444
scholar	rs587782444
google	rs587782444
pharmgkb	rs587782444
gwascentral	rs587782444
openSNP	rs587782444
23andMe	rs587782444
SNPshot	rs587782444
SNPdbe	rs587782444
MSV3d	rs587782444
GWAS Ctlg	rs587782444

Status

Merged into rs587776547

Max Magnitude

0

Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312]

ClinVar
Risk
Alt
Reference	Rs587782444(TCTAGAATT;TCTAGAATT)
Significance	Pathogenic
Disease	Ataxia-telangiectasia T-cell prolymphocytic leukemia Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Variation	info
Gene	C11orf65 ATM
CLNDBN	Ataxia-telangiectasia, complementation group E T-cell prolymphocytic leukemia Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.108202614_108202622delTAGAATTTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003155.3, RCV000003163.5, RCV000185637.3, RCV000206671.2, RCV000212075.3,