{{Rsnum
|rsid=80338948
|Gene=GJB2
|Chromosome=13
|position=20189155
|Orientation=minus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=GJB2
}}{{omim
|id=121011
|rsnum=80338948
|variant=0009
}}{{ClinVar
|rsid=80338948
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=20763294
|CHROM=13
|GMAF=0.0005
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000016110100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.20763294G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1272; 121011.0009
|CLNSIG=5
|CLNCUI=C2673759; C1844678
|CLNDBN=Deafness, autosomal recessive 1A; Hereditary hearing loss and deafness
|Disease=Deafness; Hereditary hearing loss and deafness
|CLNACC=RCV000018533.23; RCV000037853.1
|Tags=RV;PM;PMC;S3D;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1272:NBK1434:C2673759:220290:90636; NBK1434:C0236038:95827002
|COMMON=0
}}{{PMID Auto
|PMID=9471561
|Title=Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa.
}}

{{PMID Auto
|PMID=12457154
|Title=Selection for deafness?
}}

{{PMID Auto
|PMID=10633133
|Title=Prevalent connexin 26 gene (GJB2) mutations in Japanese.
|OA=1
}}

{{PMID Auto
|PMID=10982180
|Title=Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
}}

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

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