{{Rsnum
|rsid=397514706
|Chromosome=15
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=CHST14
|position=40472034
|Gene_s=CHST14
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=15
|CLNACC=RCV000043688.2
|CLNALLE=1
|CLNDBN=Ehlers-Danlos syndrome, musculocontractural type
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1866294:601776:2953
|CLNHGVS=NC_000015.9:g.40764233G>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608429.0009
|Disease=Ehlers-Danlos syndrome
|FwdALT=C
|FwdREF=G
|GENEINFO=CHST14:113189
|GENE_ID=113189
|GENE_NAME=CHST14
|REF=G
|RSPOS=40764233
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514706
}}