Variant: rs121912461 

    present in Gene: ITGB4
    present in Chromosome: 17
    Position on Chromosome: 75727853
    Alleles of this Variant: T/C

rs121912461 in ITGB4 gene and Epidermolysis bullosa with pyloric atresia PMID 9546354 1998 Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.

PMID 9892956 1998 Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.

PMID 9792864 1998 Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

PMID 10873890 2000 Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.

PMID 11328943 2001 Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.

PMID 11251584 2001 Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

PMID 9422533 1998 Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).