{{Rsnum
|rsid = 28934891
|Gene = CBS
|geno1 = (A;A)
|geno2 = (A;G)
|geno3 = (G;G)
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|Chromosome=21
|position=43058862
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CBS
}}{{omim
| id = 236200
| variant = 0010
| desc    = HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
| rsnum   = 28934891
}}
{{ neighbor
| rsid = 28934892
| distance = 65
}}

{{omim
|id=613381
|rsnum=28934891
|variant=0010
}}

{{ClinVar
|rsid=28934891
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=44478972
|CHROM=21
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=CBS:875
|GENE_NAME=CBS
|GENE_ID=875
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.44478972C>T
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=203; 613381.0010
|CLNSIG=5
|CLNCUI=CN068394
|CLNDBN=Homocystinuria, pyridoxine-responsive; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided
|Disease=Homocystinuria; HYPERHOMOCYSTEINEMIA; not provided
|CLNACC=RCV000000148.1; RCV000000149.1; RCV000078108.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=CN068394
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}