Variant: rs121912482 

    present in Gene: LAMB3
    present in Chromosome: 1
    Position on Chromosome: 209633070
    Alleles of this Variant: C/T

rs121912482 in LAMB3 gene and Adult junctional epidermolysis bullosa (disorder) PMID 9767254 1998 E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.

PMID 17476356 2007 Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.