{{Rsnum
|rsid=80338940
|Chromosome=13
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GJB2
|position=20192782
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GJB2
}}{{omim
|id=121011
|rsnum=80338940
|variant=0029
}}{{ClinVar
|rsid=80338940
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=20766921
|CHROM=13
|dbSNPBuildID=131
|SSR=0
|SAO=0
|VP=050168200005000002110100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.20766921C>T
|CLNSRC=OMIM Allelic Variant; GeneReviews
|CLNORIGIN=0
|CLNSRCID=121011.0029; NBK1272
|CLNSIG=5
|CLNCUI=C2673759; C1844678
|CLNDBN=Deafness, autosomal recessive 1A; Deafness, X-linked 2
|Disease=Deafness
|CLNACC=SCV000038839.1; SCV000041037.1
|Tags=RV;PM;PMC;SLO;ASS;ASP;OTHERKG;LSD;OM
}}{{PMID Auto
|PMID=10218527
|Title=Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
}}

{{PMID Auto
|PMID=11935342
|Title=Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.
}}

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

{{PMID Auto
|PMID=16650079
|Title=High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2.
}}