BLM gene homepage

General information
Gene symbol BLM
Gene name BLM RecQ like helicase
Chromosome 15
Chromosomal band q26.1
Imprinted Unknown
Genomic reference LRG_20
Transcript reference NM_000057.2
Associated with diseases BLM
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 286
Unique public DNA variants reported 111
Individuals with public variants 278
Hidden variants 0
Date created May 20, 2020
Date last updated October 07, 2020
Version BLM:201007

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 1058
Entrez Gene 641
PubMed articles BLM
OMIM - Gene 604610
OMIM - Diseases BLM (Bloom Syndrome)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000010 15 Bloom syndrome, RecQ helicase-like NM_000057.2 NP_000048.1 286


Copyright & disclaimer
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