{{Rsnum
|rsid=80338944
|Chromosome=13
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GJB2
|position=20189351
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GJB2
}}{{omim
|id=121011
|rsnum=80338944
|variant=0002
}}{{ClinVar
|rsid=80338944
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=20763490
|CHROM=13
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.20763490C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1272; 121011.0002
|CLNSIG=5
|CLNCUI=C2673759; C2673759
|CLNDBN=Deafness, autosomal recessive 1A; Hereditary hearing loss and deafness
|Disease=Deafness; Hereditary hearing loss and deafness
|CLNACC=RCV000018524.27; RCV000037826.1
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1272:NBK1434:C2673759:220290:90636; NBK1434:C0236038:95827002
}}{{PMID Auto
|PMID=9328482
|Title=Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
}}

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