{{Rsnum
|rsid=871443
|Gene=ITGB4
|Chromosome=17
|position=75757422
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.4114
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ITGB4
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 55.8 | 39.8 | 4.4
| HCB | 35.0 | 46.7 | 18.2
| JPT | 38.1 | 50.4 | 11.5
| YRI | 2.0 | 24.5 | 73.5
| ASW | 1.8 | 31.6 | 66.7
| CHB | 35.0 | 46.7 | 18.2
| CHD | 45.0 | 42.2 | 12.8
| GIH | 57.4 | 34.7 | 7.9
| LWK | 0.9 | 29.1 | 70.0
| MEX | 51.7 | 43.1 | 5.2
| MKK | 6.4 | 31.4 | 62.2
| TSI | 59.8 | 35.3 | 4.9
| HapMapRevision=28
}}{{Venter SNP
|rsid=871443
|allele=C
|frequency=0.25
|uid=1103645382586
|type=heterozygous_SNP
|hugo=ITGB4
|ensembl gene=ENSG00000132470
|ensembl transcript=ENST00000200181
|sift=TOLERATED
|disease=Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) (MIM:226650). This nonlethal form of junctional epidermolysis bullosa is characterized by life- long blistering of the skin, associated with hair and tooth abnormalities.
}}

{{ neighbor
| rsid = 743554
| distance = 745
}}

{{GET Evidence
|gene=ITGB4
|aa_change=Leu1779Pro
|aa_change_short=L1779P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs871443
|overall_frequency_n=6497
|overall_frequency_d=10754
|overall_frequency=0.604147
|n_genomes=39
|n_genomes_annotated=0
|n_haplomes=61
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=7
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23617461
|Title=Role of beta4 integrin in HER-3-negative, K-RAS wild-type metastatic colorectal tumors receiving cetuximab.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}