{{Rsnum
|rsid=80338688
|Gene=SOX9
|Chromosome=17
|position=72124177
|Orientation=plus
|GMAF=0.0009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=SOX9
}}{{omim
|id=608160
|rsnum=80338688
|variant=0005
}}{{ClinVar
|rsid=80338688
|Reversed=0
|FwdREF=C
|FwdALT=A,G,T
|REF=C
|ALT=A,G,T
|RSPOS=70120318
|CHROM=17
|GMAF=0.0009
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000040016110104
|GENEINFO=SOX9:6662
|GENE_NAME=SOX9
|GENE_ID=6662
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000017.10:g.70120318C>A; NC_000017.10:g.70120318C>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1760; 608160.0005
|CLNSIG=5
|CLNCUI=C1861922
|CLNDBN=Camptomelic dysplasia; Campomelic dysplasia with autosomal sex reversal
|Disease=Camptomelic dysplasia; Campomelic dysplasia with autosomal sex reversal
|CLNACC=RCV000020282.1; RCV000002617.1; RCV000020283.1
|Tags=PM;PMC;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM;NOV
|CAF=0.9991; 0.0009183
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1760:C1861922:114290:140:74928006; C1842462
|COMMON=0
}}{{PMID Auto
|PMID=15806394
|Title=A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.
}}