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rs80356682

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
Position209625721
GeneLAMB3
is asnp
is mentioned by
dbSNPrs80356682
ebirs80356682
HLIrs80356682
Exacrs80356682
Varsomers80356682
Maprs80356682
PheGenIrs80356682
hapmaprs80356682
1000 genomesrs80356682
hgdprs80356682
ensemblrs80356682
gopubmedrs80356682
geneviewrs80356682
scholarrs80356682
googlers80356682
pharmgkbrs80356682
gwascentralrs80356682
openSNPrs80356682
23andMers80356682
23andMe allrs80356682
SNP Nexus

SNPshotrs80356682
SNPdbers80356682
MSV3drs80356682
GWAS Ctlgrs80356682
Merged fromRs121912480
Max Magnitude5

rs80356682, also known as R635X, is a SNP in the laminin, beta 3 LAMB3 gene. This SNP is termed i5012672 by 23andMe.

The rare rs80356682(T) allele is a mutation associated with epidermolysis bullosa when co-inherited with another LAMB3 mutation.

According to 23andMe, this SNP is relatively common, accounting for at least 30% of all Herlitz JEB-causing mutations, and it has been reported in individuals of European ancestry from many locations.

OMIM150310
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356682(T;T)
Alt rs80356682(T;T)
Reference rs80356682(C;C)
Significance Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz Adult junctional epidermolysis bullosa
Variation info
Gene LAMB3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz Adult junctional epidermolysis bullosa
Reversed 1
HGVS NC_000001.10:g.209799066G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015638.28, RCV000015639.27,


[PMID 7698759] A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa.


[PMID 9205497] 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 9242513] 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 10577906OA-icon.png] Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.


[PMID 15538630] Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.