{{Rsnum
|rsid=386833849
|Chromosome=8
|position=144513713
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=RECQL4
|Gene_s=RECQL4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=T
|CHROM=8
|CLNACC=RCV000049817.1
|CLNALLE=1
|CLNDBN=Rapadilino syndrome
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1849453:266280:3021
|CLNHGVS=NC_000008.10:g.145739097C>T
|CLNSIG=4
|Disease=Rapadilino syndrome
|FwdALT=A
|FwdREF=G
|REF=C
|RSPOS=145739097
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386833849
|GENEINFO=RECQL4:9401
|GENE_ID=9401
|GENE_NAME=RECQL4
}}{{PMID Auto
|PMID=18716613
|Title=The mutation spectrum in RECQL4 diseases.
|OA=1
}}