{{Rsnum
|rsid=80358210
|Chromosome=1
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=GJB4
|position=34761507
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GJB4
}}{{omim
|id=605425
|rsnum=80358210
|variant=0003
}}{{ClinVar
|rsid=80358210
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=34761507
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000a05000002110100
|GENEINFO=GJB4:127534
|GENE_NAME=GJB4
|GENE_ID=127534
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.34761507A>C
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_153212.2:c.253A>C; 605425.0003
|CLNSIG=5
|CLNCUI=C0265961
|CLNDBN=Erythrokeratodermia variabilis
|Disease=Erythrokeratodermia variabilis
|CLNACC=RCV000005309.1
|Tags=PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C0265961:133200:ORPHA316:ORPHA317:70041004
}}