BLM gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

BLM (BLM RecQ like helicase)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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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	290
Unique public DNA variants reported	111
Individuals with public variants	287
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 16, 2022
Version	BLM:220516

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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000010	15	Bloom syndrome, RecQ helicase-like	NM_000057.2	NP_000048.1	290

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