LAMB3 laminin subunit beta 3

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

Symbol: LAMB3
Type: protein-coding
Description: laminin subunit beta 3
Entrez Gene ID: 3914
Genome: hg19
Position: chr1:209,788,215-209,825,770
Genome: hg38
Position: chr1:209,614,870-209,652,425
MIM: 150310 OMIM
HGNC: HGNC:6490 HGNC
Ensembl: ENSG00000196878 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	4	306
Likely pathogenic	0	284
Benign	0	172
Likely benign	0	1,416
Conflicting classifications of pathogenicity	0	92
Uncertain significance	0	416

Ranking

	ClinVar
	0
	0
	314
	2,174
	26

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

Search Word

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	AI1A
SYNONYM	BM600-125KDA
SYNONYM	JEB1A
SYNONYM	JEB1B
SYNONYM	LAM5
SYNONYM	LAMNB1
MIM	150310 OMIM
HGNC	HGNC:6490 HGNC
Ensembl	ENSG00000196878 Ensembl
AllianceGenome	HGNC:6490

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000367030.7	hg38	chr1	209,614,977	209,652,329	37,353
ENST00000391911.5	hg38	chr1	209,614,875	209,651,334	36,460
ENST00000356082.9	hg38	chr1	209,614,870	209,652,425	37,556
ENST00000356082.9	hg19	chr1	209,788,215	209,825,770	37,556
ENST00000391911.5	hg19	chr1	209,788,220	209,824,679	36,460
ENST00000367030.7	hg19	chr1	209,788,322	209,825,674	37,353

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