{{Rsnum
|rsid=121918240
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=MMACHC
|position=45508282
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=MMACHC
}}{{omim
|id=609831
|rsnum=121918240
|variant=0002
}}{{ClinVar
|rsid=121918240
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=45508282
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000a05000002110100
|GENEINFO=MMACHC:25974
|GENE_NAME=MMACHC
|GENE_ID=25974
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.45508282T>C
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_015506.2:c.347T>C; 609831.0002
|CLNSIG=5
|CLNCUI=C1848561
|CLNDBN=Methylmalonic acidemia with homocystinuria
|Disease=Methylmalonic acidemia with homocystinuria
|CLNACC=RCV000001487.1
|Tags=PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1328:C1848561:277400:ORPHA26:ORPHA79282
}}