{{Rsnum
|rsid=121964967
|Chromosome=21
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CBS
|position=43059299
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CBS
}}{{omim
|id=613381
|rsnum=121964967
|variant=0007
}}{{ClinVar
|rsid=121964967
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=44479409
|CHROM=21
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=CBS:875
|GENE_NAME=CBS
|GENE_ID=875
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.44479409T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=613381.0007
|CLNSIG=5
|CLNCUI=CN068394
|CLNDBN=Homocystinuria, pyridoxine-responsive
|Disease=Homocystinuria
|CLNACC=RCV000000145.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=CN068394
}}