{{Rsnum
|rsid=104894948
|Chromosome=X
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=TRAPPC2
|position=13716080
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=OFD1,TRAPPC2
}}{{omim
|id=300202
|rsnum=104894948
|variant=0007
}}{{ClinVar
|rsid=104894948
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=13734199
|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.13734199A>G
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000012269.21
|CLNDBN=Spondyloepiphyseal dysplasia tarda
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=300202.0007
|Disease=Spondyloepiphyseal dysplasia tarda
}}