{{Rsnum
|rsid=116840815
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GJB1
|position=71223750
|Gene_s=GJB1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=X
|CLNACC=RCV000020174.1
|CLNALLE=1
|CLNDBN=X-linked hereditary motor and sensory neuropathy
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1374:C0393808:302800:101075:230552007
|CLNHGVS=NC_000023.10:g.70443600C>T
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1374
|Disease=X-linked hereditary motor and sensory neuropathy
|FwdALT=T
|FwdREF=C
|GENEINFO=GJB1:2705
|GENE_ID=2705
|GENE_NAME=GJB1
|REF=C
|RSPOS=70443600
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050360000000000002110100
|WGT=0
|dbSNPBuildID=132
|rsid=116840815
}}