chr1:209625721:G>A Detail (hg38) (LAMB3)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:209,799,066-209,799,066 View the variant detail on this assembly version.
hg38	chr1:209,625,721-209,625,721

HGVS

LAMB3

Type	Transcript	Protein
RefSeq	NM_000228.2:c.1903C>T	NP_000219.2:p.Arg635Ter
	NM_001127641.1:c.1903C>T	NP_001121113.1:p.Arg635Ter
	NM_001017402.1:c.1903C>T	NP_001017402.1:p.Arg635Ter
Ensemble	ENST00000356082.9:c.1903C>T	ENST00000356082.9:p.Arg635Ter
	ENST00000367030.7:c.1903C>T	ENST00000367030.7:p.Arg635Ter
	ENST00000391911.5:c.1903C>T	ENST00000391911.5:p.Arg635Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

LAMB3

Type	Database	ID	Link
Gene	MIM	150310	OMIM
	HGNC	6490	HGNC
	Ensembl	ENSG00000196878	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-12-01	criteria provided, multiple submitters, no conflicts	Junctional epidermolysis bullosa gravis of Herlitz	germline maternal unknown	Detail
Pathogenic	2022-12-01	criteria provided, multiple submitters, no conflicts	Junctional epidermolysis bullosa, non-Herlitz type	germline maternal unknown	Detail
Pathogenic	2024-01-21	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-03-03	criteria provided, multiple submitters, no conflicts	amelogenesis imperfecta type 1A,Junctional epidermolysis bullosa gravis of Herlitz,Junctional epidermolysis bullosa, non-Herlitz type	germline unknown	Detail
Pathogenic	2022-03-03	criteria provided, multiple submitters, no conflicts	amelogenesis imperfecta type 1A,Junctional epidermolysis bullosa gravis of Herlitz,Junctional epidermolysis bullosa, non-Herlitz type	germline unknown	Detail
Pathogenic	2022-03-03	criteria provided, multiple submitters, no conflicts	amelogenesis imperfecta type 1A,Junctional epidermolysis bullosa gravis of Herlitz,Junctional epidermolysis bullosa, non-Herlitz type	germline unknown	Detail
Pathogenic	2018-11-02	criteria provided, single submitter	junctional epidermolysis bullosa	germline	Detail
Pathogenic	2023-12-21	criteria provided, single submitter	LAMB3-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.560	Adult junctional epidermolysis bullosa (disorder)	NA	CLINVAR		Detail
0.440	Herlitz Disease	NA	CLINVAR		Detail
0.136	junctional epidermolysis bullosa	Predominance of the recurrent mutation R635X in the LAMB3 gene in European patie...	BeFree	9242513	Detail
0.136	junctional epidermolysis bullosa	Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlit...	BeFree	9209887	Detail
0.136	junctional epidermolysis bullosa	Recently, one particular mutation, R635X in the LAMB3 gene, has been found to ac...	BeFree	9205497	Detail
<0.001	Hypoproteinemia	Two infants, both homozygous for the Herlitz mutation R635X in the LAMB3 gene, w...	BeFree	12378197	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) AND Junctional epidermolysis bullosa gravis of Herlitz	ClinVar	Detail
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) AND Junctional epidermolysis bullosa, non-Herlitz type	ClinVar	Detail
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) AND not provided	ClinVar	Detail
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) AND multiple conditions	ClinVar	Detail
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) AND multiple conditions	ClinVar	Detail
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) AND multiple conditions	ClinVar	Detail
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) AND Junctional epidermolysis bullosa	ClinVar	Detail
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) AND LAMB3-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz jun...	DisGeNET	Detail
Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epiderm...	DisGeNET	Detail
Recently, one particular mutation, R635X in the LAMB3 gene, has been found to account for approximat...	DisGeNET	Detail
Two infants, both homozygous for the Herlitz mutation R635X in the LAMB3 gene, who had refractory an...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs80356682 dbSNP
Genome: hg38
Position: chr1:209,625,721-209,625,721
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8626
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1592858798979828E-4
Chromosome Counts in All Race (ExAC): 121034
Allele Counts in All Race (ExAC): 92
Heterozygous Counts in All Race (ExAC): 92
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 7.601169919196259E-4

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