{{Rsnum
|rsid=121434387
|Chromosome=16
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=COG8
|position=69331067
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=COG8,PDF
}}{{omim
|id=606979
|rsnum=121434387
|variant=0001
}}{{ClinVar
|rsid=121434387
|Reversed=1
|FwdREF=C
|FwdALT=G
|REF=G
|ALT=C
|RSPOS=69364970
|CHROM=16
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=COG8:84342; PDF:64146
|GENE_NAME=COG8; PDF
|GENE_ID=84342; 64146
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.69364970G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606979.0001
|CLNSIG=5
|CLNCUI=C1970021
|CLNDBN=Congenital disorder of glycosylation type 2H
|Disease=Congenital disorder of glycosylation type 2H
|CLNACC=RCV000003832.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1332:C1970021:611182:95428
}}