{{Rsnum
|rsid=80359858
|Chromosome=8
|Orientation=plus
|geno1=(-;-)
|geno2=(-;TAAG)
|geno3=(TAAG;TAAG)
|Gene=ESCO2
|position=27780269
|Gene_s=ESCO2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=8
|CLNACC=RCV000020414.1
|CLNALLE=1
|CLNDBN=Roberts-SC phocomelia syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1153:C0392475:268300:269000:3103:48718006
|CLNHGVS=NC_000008.10:g.27637786_27637789delTAAG
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1153
|Disease=Roberts-SC phocomelia syndrome
|FwdREF=TAAG
|GENEINFO=ESCO2:157570
|GENE_ID=157570
|GENE_NAME=ESCO2
|REF=GTAAG
|RSPOS=27637785
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050168000000000002110200
|WGT=0
|dbSNPBuildID=132
|rsid=80359858
}}{{PMID Auto
|PMID=18411254
|Title=The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
}}