{{Rsnum
|rsid=121912873
|Chromosome=12
|Orientation=minus
|geno1=(-;-)
|geno2=(-;T)
|geno3=(T;T)
|Gene=COL2A1
|position=47977627
|Gene_s=COL2A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120140
|rsnum=121912873
|variant=0015
}}{{ClinVar
|rsid=121912873
|Reversed=1
|FwdREF=T
|FwdALT=
|REF=CA
|ALT=C
|RSPOS=48371409
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110200
|GENEINFO=COL2A1:1280
|GENE_NAME=COL2A1
|GENE_ID=1280
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.48371410delA
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000018909.26
|CLNDBN=Stickler syndrome type 1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1302:CN032634:108300:828
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120140.0015
|Disease=Stickler syndrome type 1
}}