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BLM

From SNPedia

is agene
is mentioned by
Full nameBloom syndrome, RecQ helicase-like
Other namesRECQL3
EntrezGene641
PheGenI641
VariationViewer641
ClinVarBLM
GeneCardsBLM
dbSNP641
DiseasesBLM
SADR641
HugeNav641
wikipediaBLM
googleBLM
gopubmedBLM
EVSBLM
HEFalMpBLM
MyGene2BLM
23andMeBLM
UniProtP54132
EnsemblENSG00000197299
OMIM604610
# SNPs84
 Max MagnitudeChromosome positionSummary
i400039691,310,153
rs1057516253090,798,284
rs1057516261090,811,330
rs1057516297090,749,711
rs1057516361090,761,093
rs1057516452090,784,978
rs1057516547090,804,246
rs1057516593090,747,394
rs1057516700090,785,079
rs1057516719090,794,169
rs1057516728090,809,240
rs1057516774090,803,562
rs1057516956090,761,137
rs1057516964090,760,657
rs1057517013090,760,852
rs1057517030090,754,934
rs1057517154090,804,275
rs1057517229090,749,930
rs1057517266090,761,095
rs1057517359090,754,857
rs1057517374090,749,566
rs1057517431090,761,168
rs1057517432090,761,113
rs1057518690090,760,917
rs1060500652090,765,415
rs113993962490,766,923
rs11852361090,782,869
rs137853152090,769,559
rs137853153490,794,254
rs148969222090,803,721
rs150421256090,811,203
rs200389141090,761,015
rs222793590,782,869
rs238016590,797,765
rs253210590,812,255
rs367543012090,769,438
rs367543013090,750,040
rs367543014090,790,748
rs367543015090,760,145
rs367543016090,769,233
rs367543017090,798,257
rs367543018090,804,195
rs367543019090,769,519
rs367543020090,804,289
rs367543021090,804,335
rs367543022090,798,202
rs367543023090,790,712
rs367543024090,769,537
rs367543025090,794,344
rs367543026090,749,850
... further results

BLM or RECQL3 codes for a protein in the RecQ helicase family, helicase RecQ protein-like-3.

The BLM(Ash) frameshift mutation is common in Ashkenazi Jews(1%).

Over 70 mutations in BLM are associated with Bloom syndrome. Alterations in BLM activity affect genome stability. [1]