Variant: rs1057516539 

    present in Gene: LAMB3
    present in Chromosome: 1
    Position on Chromosome: 209633069
    Alleles of this Variant: C/T

rs1057516539 in LAMB3 gene and Herlitz Disease PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 7550237 1995 Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3).