{{Rsnum
|rsid=80338950
|Chromosome=13
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=GJB2
|position=20189031
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GJB2
}}{{omim
|id=121011
|rsnum=80338950
|variant=0008
}}{{ClinVar
|rsid=80338950
|Reversed=1
|FwdREF=G
|FwdALT=A,C
|REF=C
|ALT=G,T
|RSPOS=20763170
|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; 2
|CLNHGVS=NC_000013.10:g.20763170C>G; NC_000013.10:g.20763170C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1272; 121011.0008; 121011.0039
|CLNSIG=5
|CLNCUI=C2673759; C1844678
|CLNDBN=Deafness, autosomal recessive 1A; Hereditary hearing loss and deafness; Deafness, autosomal dominant 3a
|Disease=Deafness; Hereditary hearing loss and deafness
|CLNACC=RCV000018531.23; RCV000037863.1; RCV000022511.26
|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; NBK1434:NBK1536:C2675750:601544:90635
}}{{PMID Auto
|PMID=9336442
|Title=Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
}}

{{PMID Auto
|PMID=14735592
|Title=Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness.
}}

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