{{Rsnum
|rsid=386833853
|Chromosome=8
|position=144512166
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=RECQL4
|Gene_s=RECQL4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=A
|CHROM=8
|CLNACC=RCV000049821.1
|CLNALLE=1
|CLNDBN=Rapadilino syndrome
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1849453:266280:3021
|CLNHGVS=NC_000008.10:g.145737549T>A
|CLNSIG=4
|Disease=Rapadilino syndrome
|FwdALT=T
|FwdREF=A
|REF=T
|RSPOS=145737549
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386833853
|GENEINFO=RECQL4:9401
|GENE_ID=9401
|GENE_NAME=RECQL4
}}{{PMID Auto
|PMID=12952869
|Title=Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
}}