rs55861249

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of an ataxia-telangiectasia mutation

Make rs55861249(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

108227806

Gene

ATM

is a	snp
is	mentioned by
dbSNP	rs55861249
dbSNP (classic)	rs55861249
ClinGen	rs55861249
ebi	rs55861249
HLI	rs55861249
Exac	rs55861249
Gnomad	rs55861249
Varsome	rs55861249
LitVar	rs55861249
Map	rs55861249
PheGenI	rs55861249
Biobank	rs55861249
1000 genomes	rs55861249
hgdp	rs55861249
ensembl	rs55861249
geneview	rs55861249
scholar	rs55861249
google	rs55861249
pharmgkb	rs55861249
gwascentral	rs55861249
openSNP	rs55861249
23andMe	rs55861249
SNPshot	rs55861249
SNPdbe	rs55861249
MSV3d	rs55861249
GWAS Ctlg	rs55861249

Max Magnitude

3

aka c.103C>T (p.Arg35Ter or R35X), but also c.103C>A (p.Arg35=); the former is considered pathogenic but the latter is likely to be benign according to ClinVar

R35X is considered to be a founder mutation among North African Jews, according to a paper cited in OMIM.

OMIM	607585
Desc
Variant	0008
Related	also

ClinVar
Risk	rs55861249(A;A) rs55861249(T;T)
Alt	rs55861249(A;A) rs55861249(T;T)
Reference	Rs55861249(C;C)
Significance	Other
Disease	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified not provided
Variation	info
Gene	ATM
CLNDBN	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified not provided
Reversed	0
HGVS	NC_000011.9:g.108098533C>A; NC_000011.9:g.108098533C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000162607.1, RCV000227829.2, RCV000242698.1, RCV000003164.6, RCV000130278.4, RCV000236608.2,