{{Rsnum
|rsid=199474657
|Chromosome=MT
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=DDX27
|position=3243
|Assembly=GRCh37.p10
|GenomeBuild=37.5
|dbSNPBuild=138
}}{{ClinVar
|ALT=G
|CHROM=MT
|CLNACC=RCV000010206.2; RCV000010208.2; RCV000010209.4; RCV000010210.2; RCV000010211.2; RCV000022901.2; RCV000022902.2; RCV000032997.2
|CLNALLE=1
|CLNDBN=Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Muscle stiffness, painful; Age-related macular degeneration 2; Cyclical vomiting syndrome; Cytochrome-c oxidase deficiency; 3-Methylglutaconic aciduria; MERRF/MELAS overlap syndrome; Diabetes-deafness syndrome maternally transmitted
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen:OMIM; MedGen:OMIM:SNOMED_CT; MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1224:NBK1233:C0162671:540000:550:39925003; CN031413:153800; C0152164:500007:18773000; C0268237:220110:67434000; C0342727:250950:67046:237950009; CN069283; C0342289:520000:225:237619009
|CLNHGVS=NC_012920.1:m.3243A>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=590050.0001
|Disease=Juvenile myopathy; Muscle stiffness; Age-related macular degeneration 2; Cyclical vomiting syndrome; Cytochrome-c oxidase deficiency; 3-Methylglutaconic aciduria; MERRF/MELAS overlap syndrome; Diabetes-deafness syndrome maternally transmitted
|FwdALT=G
|FwdREF=A
|REF=A
|RSPOS=3243
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=199474657
}}