{{Rsnum
|rsid = 28940289
|Gene = ETHE1
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=19
|position=43511455
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ETHE1
}}{{omim
|desc=ETHYLMALONIC ENCEPHALOPATHY
|id=608451
|rsnum=28940289
|variant=0001
}}{{ClinVar
|rsid=28940289
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=44015607
|CHROM=19
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=ETHE1:23474
|GENE_NAME=ETHE1
|GENE_ID=23474
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.44015607G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=608451.0001
|CLNSIG=5
|CLNCUI=C1865349
|CLNDBN=Ethylmalonic encephalopathy
|Disease=Ethylmalonic encephalopathy
|CLNACC=RCV000002407.2
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1865349:602473:51188
}}