{{Rsnum
|rsid=80338755
|Gene=ITGB4
|Chromosome=17
|position=75727423
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ITGB4
}}{{omim
|id=147557
|rsnum=80338755
|variant=0005
}}{{ClinVar
|rsid=80338755
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=73723504
|CHROM=17
|GMAF=0.0005
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000016110100
|GENEINFO=ITGB4:3691
|GENE_NAME=ITGB4
|GENE_ID=3691
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.73723504G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1157; 147557.0005
|CLNSIG=5
|CLNCUI=C1856934; C1856934
|CLNDBN=Epidermolysis bullosa with pyloric atresia
|Disease=Epidermolysis bullosa with pyloric atresia
|CLNACC=RCV000015855.24
|Tags=PM;PMC;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1157:C1856934:226730:79403
|COMMON=0
}}{{PMID|9792864|OA=1
}} Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

{{PMID|16473856|OA=1
}} Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.