{{Rsnum
|rsid=111033293
|Chromosome=13
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GJB2
|position=20189581
|Gene_s=GJB2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=111033293
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=20763720
|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.20763720T>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD
|CLNACC=RCV000037821.1
|CLNDBN=Hereditary hearing loss and deafness
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1434:C0236038:95827002
|Disease=Hereditary hearing loss and deafness
}}{{PMID Auto
|PMID=9482292
|Title=Connexin-26 mutations in sporadic and inherited sensorineural deafness.
}}

{{PMID Auto
|PMID=12189493
|Title=Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
}}

{{PMID Auto
|PMID=18983339
|Title=Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population.
}}