LMAN1 lectin, mannose binding 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: LMAN1
Type: protein-coding
Description: lectin, mannose binding 1
Entrez Gene ID: 3998
Genome: hg19
Position: chr18:56,995,055-57,026,497
Genome: hg38
Position: chr18:59,327,823-59,359,265
MIM: 601567 OMIM
HGNC: HGNC:6631 HGNC
Ensembl: ENSG00000074695 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	14	12
Likely pathogenic	0	4
Benign	18	80
Likely benign	0	22
Conflicting classifications of pathogenicity	0	8
Uncertain significance	0	198

Ranking

	ClinVar
	0
	0
	14
	294
	8

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

Search Word

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

Search Word

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

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

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	ERGIC-53
SYNONYM	ERGIC53
SYNONYM	F5F8D
SYNONYM	FMFD1
SYNONYM	MCFD1
SYNONYM	MR60
SYNONYM	gp58
MIM	601567 OMIM
HGNC	HGNC:6631 HGNC
Ensembl	ENSG00000074695 Ensembl
AllianceGenome	HGNC:6631

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000251047.6	hg38	chr18	59,327,823	59,359,265	31,443
ENST00000251047.6	hg19	chr18	56,995,055	57,026,497	31,443

Key	Value
strand	-
start	56,995,055
Gene Symbol	LMAN1
Entrez GeneId	3,998
Chr Band	18q21.3-q22
end	57,026,507
chr	chr18

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