{{Rsnum
|rsid=1801002
|Chromosome=13
|Orientation=minus
|geno1=(-;-)
|geno2=(-;G)
|geno3=(G;G)
|Gene=GJB2
|position=20189547
|Gene_s=GJB2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=1801002
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=20763686
|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
|CLNHGVS=NC_000013.10:g.20763686C>A
|CLNSRC=Emory University; GeneReviews
|CLNORIGIN=0
|CLNSRCID=15760; NBK1272
|CLNSIG=5
|CLNCUI=C1844678
|CLNDBN=Deafness, autosomal recessive 1A; Hereditary hearing loss and deafness; not provided
|Disease=Deafness; Hereditary hearing loss and deafness; not provided
|CLNACC=RCV000020570.2; RCV000037842.1; RCV000080372.1
|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
}}

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

{{GET Evidence
|gene=GJB2
|aa_change=Gly12Shift
|aa_change_short=G12Shift
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801002
|overall_frequency_n=1
|overall_frequency_d=128
|overall_frequency=0.0078125
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=4
|autoscore=4
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}