chr1:209633070:C>T 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	chr1:209,806,415-209,806,415 View the variant detail on this assembly version.
hg38	chr1:209,633,070-209,633,070

HGVS

LAMB3

Type	Transcript	Protein
RefSeq	NM_000228.2:c.628G>A	NP_000219.2:p.Glu210Lys
	NM_001127641.1:c.628G>A	NP_001121113.1:p.Glu210Lys
	NM_001017402.1:c.628G>A	NP_001017402.1:p.Glu210Lys
Ensemble	ENST00000356082.9:c.628G>A	ENST00000356082.9:p.Glu210Lys
	ENST00000367030.7:c.628G>A	ENST00000367030.7:p.Glu210Lys
	ENST00000391911.5:c.628G>A	ENST00000391911.5:p.Glu210Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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
Likely pathogenic	2023-01-05	criteria provided, single submitter	Junctional epidermolysis bullosa, non-Herlitz type	germline unknown	Detail
Pathogenic	2023-10-06	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-02-01	criteria provided, single submitter	junctional epidermolysis bullosa	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Atrophic condition of skin	As the third patient is a young child with fewer features of this subtype to dat...	BeFree	9767254	Detail
0.560	Adult junctional epidermolysis bullosa (disorder)	NA	CLINVAR		Detail
0.136	junctional epidermolysis bullosa	E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is pred...	BeFree	9767254	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) AND Junctional epidermolysis bullosa, non-Herlitz type	ClinVar	Detail
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) AND not provided	ClinVar	Detail
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) AND Junctional epidermolysis bullosa	ClinVar	Detail
As the third patient is a young child with fewer features of this subtype to date, identification of...	DisGeNET	Detail
NA	DisGeNET	Detail
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotyp...	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: rs121912482 dbSNP
Genome: hg38
Position: chr1:209,633,070-209,633,070
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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