{{Rsnum
|rsid=80359862
|Chromosome=8
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=ESCO2
|position=27788840
|Gene_s=ESCO2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80359862
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=27646357
|CHROM=8
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=ESCO2:157570
|GENE_NAME=ESCO2
|GENE_ID=157570
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.27646357A>G
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK1153
|CLNSIG=5
|CLNCUI=C0392475
|CLNDBN=Roberts-SC phocomelia syndrome
|Disease=Roberts-SC phocomelia syndrome
|CLNACC=RCV000020396.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1153:C0392475:268300:269000:3103:48718006
}}{{PMID|16380922|OA=1
}} Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.