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rs80356680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of epidermolysis bullosa allele
(T;T) 5 epidermolysis bullosa
ReferenceGRCh38 38.1/141
Chromosome1
Position209650023
GeneLAMB3
is asnp
is mentioned by
dbSNPrs80356680
ebirs80356680
HLIrs80356680
Exacrs80356680
Varsomers80356680
Maprs80356680
PheGenIrs80356680
hapmaprs80356680
1000 genomesrs80356680
hgdprs80356680
ensemblrs80356680
gopubmedrs80356680
geneviewrs80356680
scholarrs80356680
googlers80356680
pharmgkbrs80356680
gwascentralrs80356680
openSNPrs80356680
23andMers80356680
23andMe allrs80356680
SNP Nexus

SNPshotrs80356680
SNPdbers80356680
MSV3drs80356680
GWAS Ctlgrs80356680
Merged fromRs121912481
Max Magnitude5

epidermolysis bullosa, junctional, Herlitz type

OMIM150310
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356680(T;T)
Alt rs80356680(T;T)
Reference rs80356680(C;C)
Significance Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMB3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 1
HGVS NC_000001.10:g.209823368G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015641.30,


[PMID 8824879] Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.


[PMID 9767254] E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.