BLM BLM RecQ like helicase

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: BLM
Type: protein-coding
Description: BLM RecQ like helicase
Entrez Gene ID: 641
Genome: hg19
Position: chr15:91,260,577-91,359,396
Genome: hg38
Position: chr15:90,717,346-90,816,166
MIM: 604610 OMIM
HGNC: HGNC:1058 HGNC
Ensembl: ENSG00000197299 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	6	686
Likely pathogenic	0	410
Benign	0	186
Likely benign	1	2,600
Conflicting classifications of pathogenicity	0	450
drug response	0	4
no classification for the single variant	0	10
not provided	15	2
other	1	0
Uncertain significance	32	4,264

Ranking

	ClinVar
	0
	0
	2,810
	5,078
	38

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	BS
SYNONYM	MGRISCE1
SYNONYM	RECQ2
SYNONYM	RECQL2
SYNONYM	RECQL3
MIM	604610 OMIM
HGNC	HGNC:1058 HGNC
Ensembl	ENSG00000197299 Ensembl
AllianceGenome	HGNC:1058

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000681142.1	hg38	chr15	90,717,363	90,811,956	94,594
ENST00000648453.1	hg38	chr15	90,717,363	90,815,342	97,980
ENST00000355112.8	hg38	chr15	90,717,346	90,816,166	98,821
ENST00000560509.5	hg38	chr15	90,717,394	90,815,333	97,940
ENST00000680772.1	hg38	chr15	90,724,072	90,815,982	91,911
ENST00000355112.8	hg19	chr15	91,260,577	91,359,396	98,820
ENST00000681142.1	hg19	chr15	91,260,594	91,355,186	94,593
ENST00000648453.1	hg19	chr15	91,260,594	91,358,572	97,979
ENST00000560509.5	hg19	chr15	91,260,625	91,358,563	97,939
ENST00000680772.1	hg19	chr15	91,267,303	91,359,212	91,910

Key	Value
strand	+
start	91,260,557
Gene Symbol	BLM
Entrez GeneId	641
Chr Band	15q26.1
end	91,358,691
chr	chr15
Name	Bloom Syndrome

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