{{Rsnum
|rsid=80338911
|Chromosome=6
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=TFAP2B
|position=50828684
|Gene_s=TFAP2B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80338911
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=50796397
|CHROM=6
|dbSNPBuildID=137
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=TFAP2B:7021
|GENE_NAME=TFAP2B
|GENE_ID=7021
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.50796397G>A
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK1106
|CLNSIG=5
|CLNCUI=C1868570
|CLNDBN=Char syndrome
|Disease=Char syndrome
|CLNACC=RCV000020531.2
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1106:C1868570:169100:46627
}}{{PMID Auto
|PMID=15684060
|Title=Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.
|OA=1
}}