{{Rsnum
|rsid=119455952
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GORAB
|position=170552136
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GORAB
}}{{omim
|id=607983
|rsnum=119455952
|variant=0003
}}{{ClinVar
|rsid=119455952
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=170552136
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000605000002110100
|GENEINFO=GORAB:92344
|GENE_NAME=GORAB
|GENE_ID=92344
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.170552136C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_152281.2:c.859C>T; NR_027397.1:n.890C>T; 607983.0003
|CLNSIG=5
|CLNCUI=C0432255
|CLNDBN=Geroderma osteodysplastica
|Disease=Geroderma osteodysplastica
|CLNACC=RCV000002771.1
|Tags=PM;NSN;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0432255:231070:ORPHA2078:254116003
}}