{{Rsnum
|rsid=104894949
|Chromosome=X
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=TRAPPC2
|position=13714501
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=OFD1,TRAPPC2
}}{{omim
|id=300202
|rsnum=104894949
|variant=0009
}}{{ClinVar
|rsid=104894949
|Reversed=1
|FwdREF=C
|FwdALT=A
|REF=G
|ALT=T
|RSPOS=13732620
|CHROM=X
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=TRAPPC2:6399
|GENE_NAME=TRAPPC2
|GENE_ID=6399
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.13732620G>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000012271.11
|CLNDBN=Spondyloepiphyseal dysplasia tarda
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=300202.0009
|Disease=Spondyloepiphyseal dysplasia tarda
}}