{{Rsnum
|rsid=72474224
|Gene=GJB2
|Chromosome=13
|position=20189473
|Orientation=plus
|GMAF=0.01194
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=GJB2
}}{{omim
|id=121011
|rsnum=72474224
|variant=0023
}}

{{ClinVar
|rsid=72474224
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=20763612
|CHROM=13
|GMAF=0.0119
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050368000000150416110100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.20763612C>T
|CLNSRC=Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=285; NBK1272; 121011.0023
|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=RCV000018550.23; RCV000037812.1; RCV000080365.1
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9881; 0.01194
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1272:NBK1434:C2673759:220290:90636; NBK1434:C0236038:95827002
|COMMON=1
}}

{{PMID Auto
|PMID=170419
|Title=Murine xenotropic type C viruses I. Distribution and further characterization of the virus in NZB mice.
|OA=1
}}

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

{{PMID Auto
|PMID=12121355
|Title=Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.
}}

{{PMID Auto
|PMID=16840571
|Title=The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.
|OA=1
}}

{{PMID Auto
|PMID=17036313
|Title=V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.
}}

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

{{PMID Auto
|PMID=17935238
|Title=M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
}}

{{GET Evidence
|gene=GJB2
|aa_change=Val37Ile
|aa_change_short=V37I
|impact=pathogenic
|qualified_impact=Moderate clinical importance, Likely pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs72474224
|overall_frequency_n=16
|overall_frequency_d=10758
|overall_frequency=0.00148726
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.938
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|max_or_disease_name=Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
|max_or_case_pos=17
|max_or_case_neg=71
|max_or_control_pos=1
|max_or_control_neg=189
|max_or_or=45.254
|autoscore=6
|webscore=N
|n_web_uneval=10
|variant_evidence=1
|clinical_importance=1
|summary_short=This recessive variant is associated with mild hearing loss in Asians.
}}

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