| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
3
|
carrier of epidermolysis bullosa allele
|
| (T;T)
|
5
|
epidermolysis bullosa
|
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.
[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 10577906
] 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.
] Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
