{{Rsnum
|rsid=80356682
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=LAMB3
|position=209625721
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=LAMB3
}}{{omim
|id=150310
|rsnum=80356682
|variant=0001
}}{{ClinVar
|rsid=80356682
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=209625721
|CHROM=1
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000605040002110100
|GENEINFO=LAMB3:3914
|GENE_NAME=LAMB3
|GENE_ID=3914
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.209625721G>A
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_000228.2:c.1903C>T; NBK1125; 150310.0001
|CLNSIG=5
|CLNCUI=C0079683; C0268374; C0079683
|CLNDBN=Junctional epidermolysis bullosa gravis of Herlitz; Adult junctional epidermolysis bullosa
|Disease=Junctional epidermolysis bullosa gravis of Herlitz; Adult junctional epidermolysis bullosa
|CLNACC=RCV000015638.25; RCV000015639.24
|Tags=RV;PM;PMC;SLO;NSN;REF;ASP;VLD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1125:C0079683:226700:ORPHA79404:400140006; NBK1125:C0268374:226650:ORPHA251393:ORPHA79402:ORPHA79405:ORPHA89840:33662006
}}{{PMID Auto
|PMID=7698759
|Title=A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa.
}}

{{PMID Auto
|PMID=9205497
|Title=A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele.
}}

{{PMID Auto
|PMID=9242513
|Title=Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.
}}

{{PMID Auto
|PMID=10577906
|Title=Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
|OA=1
}}

{{PMID Auto
|PMID=15538630
|Title=Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
}}