{{Rsnum
|rsid=75469429
|Gene=GJC2
|Chromosome=1
|position=228157866
|Orientation=plus
|GMAF=0.007346
|Gene_s=GJC2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ClinVar
|ALT=G,T
|CAF=0.9927; 0.007346
|CHROM=1
|CLNACC=RCV000002159.1
|CLNALLE=1
|CLNDBN=Spastic paraplegia 44
|CLNHGVS=NC_000001.11:g.228157866C>G
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_020435.3:c.108C>G; 608803.0008
|COMMON=1
|Disease=Spastic paraplegia 44
|FwdALT=G,T
|FwdREF=C
|GENEINFO=GJC2:57165
|GENE_ID=57165
|GENE_NAME=GJC2
|REF=C
|RSPOS=228157866
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;NSM;REF;SYN;ASP;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000b05040416110100
|WGT=1
|dbSNPBuildID=131
|rsid=75469429
|CLNORIGIN=1
}}