BLM gene homepage

General information
Gene symbol BLM
Gene name Bloom syndrome, RecQ helicase-like
Chromosome 15
Chromosomal band q26.1
Imprinted Unknown
Genomic reference NG_007272.1
Transcript reference NM_000057.2
Exon/intron information NM_000057.2 exon/intron table
Associated with diseases BLM
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 44
Unique public DNA variants reported 41
Individuals with public variants 81
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated May 26, 2017
Version BLM:170526

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000057.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/BLM
External URL Orphanet
HGNC 1058
Entrez Gene 641
PubMed articles BLM
OMIM - Gene 604610
OMIM - Diseases BLM (Bloom syndrome (BLM))
HGMD BLM
GeneCards BLM
GeneTests BLM


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000040 15 Bloom syndrome, RecQ helicase-like NM_000057.2 NP_000048.1 44


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