Have questions? Visit https://www.reddit.com/r/SNPedia

rs113993962

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 4 Bloom syndrome; homozygote for most common mutation
(-;ATCTGA) 3 carrier for Bloom syndrome mutation
(ATCTGA;ATCTGA) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome15
Position90766923
GeneBLM
is asnp
is mentioned by
dbSNPrs113993962
ebirs113993962
HLIrs113993962
Exacrs113993962
Varsomers113993962
Maprs113993962
PheGenIrs113993962
hapmaprs113993962
1000 genomesrs113993962
hgdprs113993962
ensemblrs113993962
gopubmedrs113993962
geneviewrs113993962
scholarrs113993962
googlers113993962
pharmgkbrs113993962
gwascentralrs113993962
openSNPrs113993962
23andMers113993962
23andMe allrs113993962
SNP Nexus

SNPshotrs113993962
SNPdbers113993962
MSV3drs113993962
GWAS Ctlgrs113993962
Max Magnitude4
rs113993962 is a variant in the RECQL3 gene causing Bloom syndrome, and this particular SNP accounts for >95% of such cases in the Ashkenazi population. Note that this variation is somewhat complex, in that it represents a deletion of 6 bases along with an insertion of 7 bases at the same site. The terminology used in dbSNP (and here in SNPedia) indicates the normal allele as having the six bases ATCTGA, whereas the abnormal allele is shown only as a deletion of these six bases, without indicating the insertion. See also OMIM 604610.0001.
OMIM604610
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113993962(TAGATTC;TAGATTC)
Alt rs113993962(TAGATTC;TAGATTC)
Reference rs113993962(ATCTGA;ATCTGA)
Significance Pathogenic
Disease Bloom syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000015.10:g.90766923_90766928delATCTGAinsTAGATTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005787.4, RCV000058933.1, RCV000115290.1,


[PMID 9837821OA-icon.png] The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.