{{Rsnum
|rsid=397515431
|Chromosome=17
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=EFTUD2
|position=44879635
|Gene_s=EFTUD2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=17
|CLNACC=RCV000033145.2
|CLNALLE=1
|CLNDBN=Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1864652:610536:79113
|CLNHGVS=NC_000017.10:g.42957003T>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=603892.0007
|Disease=Growth and mental retardation
|FwdALT=G
|FwdREF=A
|GENEINFO=EFTUD2:9343
|GENE_ID=9343
|GENE_NAME=EFTUD2
|REF=T
|RSPOS=42957003
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397515431
}}