{{Rsnum
|rsid=111033549
|Chromosome=6
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL10A1
|position=116120165
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=COL10A1,NT5DC1
}}{{omim
|id=120110
|rsnum=111033549
|variant=0011
}}{{ClinVar
|rsid=111033549
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=116441328
|CHROM=6
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=NT5DC1:221294; COL10A1:1300
|GENE_NAME=NT5DC1; COL10A1
|GENE_ID=221294; 1300
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.116441328A>G
|CLNORIGIN=0
|CLNSRCID=
120110.0011
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000019026.26
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDBN=Metaphyseal chondrodysplasia, Schmid type
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0265289:156500:174:29248006
|CLNSRC=OMIM Allelic Variant
|Disease=Metaphyseal chondrodysplasia
}}{{PMID|8554571}} A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia.