{{Rsnum
|rsid=387906987
|Chromosome=19
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=ETHE1
|position=43508816
|Gene_s=ETHE1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=19
|CLNACC=RCV000023703.1
|CLNALLE=1
|CLNDBN=Ethylmalonic encephalopathy
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1865349:602473:51188
|CLNHGVS=NC_000019.9:g.44012968A>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608451.0008
|Disease=Ethylmalonic encephalopathy
|FwdALT=G
|FwdREF=T
|REF=A
|RSPOS=44012968
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906987
|GENEINFO=ETHE1:23474
|GENE_ID=23474
|GENE_NAME=ETHE1
}}