Variant: rs540704248

present in Gene: ITGA3 present in Chromosome: 17 Position on Chromosome: 50077024 Alleles of this Variant: C/G;T

rs540704248 in ITGA3 gene and INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.