{{Rsnum
|rsid=267606729
|Chromosome=15
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CHST14
|position=40472055
|Gene_s=CHST14
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=15
|CLNACC=RCV000002430.2
|CLNALLE=1
|CLNDBN=Ehlers-Danlos syndrome, musculocontractural type
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1866294:601776:2953
|CLNHGVS=NC_000015.9:g.40764254C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608429.0005
|Disease=Ehlers-Danlos syndrome
|FwdALT=T
|FwdREF=C
|GENEINFO=CHST14:113189
|GENE_ID=113189
|GENE_NAME=CHST14
|REF=C
|RSPOS=40764254
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267606729
}}