{{Rsnum
|rsid=104893652
|Chromosome=2
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=PAX3
|position=222297158
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CCDC140,PAX3
}}{{omim
|id=606597
|rsnum=104893652
|variant=0010
}}{{ClinVar
|rsid=104893652
|Reversed=1
|FwdREF=C
|FwdALT=G
|REF=G
|ALT=C
|RSPOS=223161877
|CHROM=2
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=PAX3:5077; CCDC140:151278
|GENE_NAME=PAX3; CCDC140
|GENE_ID=5077; 151278
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.223161877G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606597.0010
|CLNSIG=5
|CLNCUI=C1852510
|CLNDBN=Craniofacial deafness hand syndrome
|Disease=Craniofacial deafness hand syndrome
|CLNACC=RCV000004434.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1852510:122880:1529
}}