{{Rsnum
|rsid=121964962
|Chromosome=21
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CBS
|position=43062988
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CBS
}}{{omim
|id=613381
|rsnum=121964962
|variant=0001
}}{{ClinVar
|rsid=121964962
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=44483098
|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.44483098C>T
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=205; 613381.0001
|CLNSIG=5
|CLNCUI=CN068393
|CLNDBN=Homocystinuria, pyridoxine-nonresponsive; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided
|Disease=Homocystinuria; HYPERHOMOCYSTEINEMIA; not provided
|CLNACC=RCV000000137.1; RCV000000138.1; RCV000078112.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=CN068393
}}