{{Rsnum
|rsid=111033296
|Chromosome=13
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=GJB2
|position=20189463
|Gene_s=GJB2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=111033296
|Reversed=1
|FwdREF=C
|FwdALT=A
|REF=G
|ALT=T
|RSPOS=20763602
|CHROM=13
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000002100100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.20763602G>T
|CLNORIGIN=1
|CLNSIG=4
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD
|CLNACC=RCV000037813.1
|CLNDBN=Hereditary hearing loss and deafness
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1434:C0236038:95827002
|Disease=Hereditary hearing loss and deafness
}}{{PMID Auto
|PMID=15150777
|Title=Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
}}

{{PMID Auto
|PMID=16380907
|Title=GJB2 mutations and degree of hearing loss: a multicenter study.
|OA=1
}}

{{PMID Auto
|PMID=19371219
|Title=Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
}}