{{Rsnum
|rsid=80359851
|Chromosome=8
|Orientation=plus
|geno1=(-;-)
|geno2=(-;GT)
|geno3=(GT;GT)
|Gene=ESCO2
|position=27777053
|Gene_s=ESCO2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80359851
|Reversed=0
|FwdREF=GT
|FwdALT=
|REF=TGT
|ALT=T
|RSPOS=27634569
|CHROM=8
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110200
|GENEINFO=ESCO2:157570
|GENE_NAME=ESCO2
|GENE_ID=157570
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.27634570_27634571delGT
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK1153
|CLNSIG=5
|CLNCUI=C0392475
|CLNDBN=Roberts-SC phocomelia syndrome
|Disease=Roberts-SC phocomelia syndrome
|CLNACC=RCV000020408.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1153:C0392475:268300:269000:3103:48718006
}}{{PMID|16775838}} A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.