{{Rsnum
|rsid=104894409
|Chromosome=13
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=GJB2
|position=20189332
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GJB2
}}{{omim
|id=121011
|rsnum=104894409
|variant=0032
}}
{{omim
|id=121011
|rsnum=104894409
|variant=0037
}}{{ClinVar
|rsid=104894409
|Reversed=1
|FwdREF=G
|FwdALT=A,C
|REF=C
|ALT=G,T
|RSPOS=20763471
|CHROM=13
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000013.10:g.20763471C>G; NC_000013.10:g.20763471C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=121011.0032; 121011.0037
|CLNSIG=5
|CLNCUI=C2673759
|CLNDBN=Deafness, autosomal recessive 1A; Hereditary hearing loss and deafness
|Disease=Deafness; Hereditary hearing loss and deafness
|CLNACC=RCV000018560.27; RCV000037830.1; RCV000018564.22; RCV000037829.1
|Tags=RV;PM;PMC;S3D;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=9529365
|Title=Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
|OA=1
}}

{{PMID Auto
|PMID=12865758
|Title=Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
}}

{{PMID Auto
|PMID=16222667
|Title=Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.
}}

{{PMID Auto
|PMID=11556849
|Title=Connexin 26 studies in patients with sensorineural hearing loss.
}}

{{PMID Auto
|PMID=14985372
|Title=A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
|OA=1
}}

{{PMID Auto
|PMID=15592461
|Title=Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.
}}

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