{{Rsnum
|rsid=387906947
|Chromosome=2
|position=222297061
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=PAX3
|Gene_s=CCDC140,PAX3
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=2
|CLNACC=RCV000023560.1
|CLNALLE=1
|CLNDBN=Waardenburg syndrome type 1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1531:C1847800:193500:3440:894
|CLNHGVS=NC_000002.11:g.223161780G>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=606597.0015
|Disease=Waardenburg syndrome type 1
|FwdALT=G
|FwdREF=C
|REF=G
|RSPOS=223161780
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906947
|GENEINFO=PAX3:5077; CCDC140:151278
|GENE_ID=5077; 151278
|GENE_NAME=PAX3; CCDC140
}}