{{Rsnum
|rsid=386833851
|Chromosome=8
|position=144513126
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=RECQL4
|Gene_s=RECQL4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=8
|CLNACC=RCV000049819.1; RCV000080890.1
|CLNALLE=1
|CLNDBN=Rapadilino syndrome; not provided
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1849453:266280:3021
|CLNHGVS=NC_000008.10:g.145738509G>A
|CLNSIG=5
|Disease=Rapadilino syndrome; not provided
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=145738509
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386833851
|CLNSRC=Emory University
|CLNSRCID=7803
|GENEINFO=RECQL4:9401
|GENE_ID=9401
|GENE_NAME=RECQL4
}}{{PMID Auto
|PMID=18716613
|Title=The mutation spectrum in RECQL4 diseases.
|OA=1
}}