Variant: rs121912466 

    present in Gene: ITGB4
    present in Chromosome: 17
    Position on Chromosome: 75742591
    Alleles of this Variant: G/A

rs121912466 in ITGB4 gene and Adult junctional epidermolysis bullosa (disorder) PMID 10792571 2000 A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?