{{Rsnum
|rsid=104894397
|Chromosome=13
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GJB2
|position=20189353
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GJB2
}}{{omim
|id=121011
|rsnum=104894397
|variant=0004
}}{{ClinVar
|rsid=104894397
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=20763492
|CHROM=13
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.20763492A>G
|CLNSRC=Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=8474; NBK1272; 121011.0004
|CLNSIG=5
|CLNCUI=C2673759; C1844678
|CLNDBN=Deafness, autosomal recessive 1A; Hereditary hearing loss and deafness; not provided
|Disease=Deafness; Hereditary hearing loss and deafness; not provided
|CLNACC=RCV000018526.27; RCV000037825.1; RCV000080368.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1272:NBK1434:C2673759:220290:90636; NBK1434:C0236038:95827002
}}