{{Rsnum
|rsid=5742905
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Orientation=plus
|Chromosome=21
|position=43063074
|Gene=CBS
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CBS
}}Regarding Homocystinuria, the I278T mutation has been associated with B6 responsiveness and a
relatively mild clinical phenotype when homozygous.

{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs5742905
|Name_s=CBS:Ile278Thr; CBS I278T, 11bp upstream of CBS:844ins68; rs5742905T>C
|Gene_s=CBS
|Feature=
|Evidence=PubMed ID:19683694
|Annotation=Risk or phenotype-associated allele: T Phenotype: The T variant of rs5742905 was associated with Spina Bifida in a transmission disequilibrium test. Study size: 610 families (329 trios, 281 duos) Study population/ethnicity: Patients affected with Spina Bifida and their parents; Houston, TX; Los Angeles, CA; Toronto, ON, Canada Significance metric(s): p = 0.0156 Type of association: CO
|Drugs=
|Drug Classes=
|Diseases=Neural Tube Defects; Spina Bifida Cystica
|Curation Level=Curated
|PharmGKB Accession ID=PA165223218
}}

{{PharmGKB
|RSID=rs5742905
|Name_s=CBS: c.833T>C; p.I278T
|Gene_s=CBS
|Feature=
|Evidence=PubMed ID:7506602; PubMed ID:7611293
|Annotation=This variant has also been identified in Celtic homocystinuria patients.
|Drugs=
|Drug Classes=
|Diseases=Homocystinuria
|Curation Level=Curated
|PharmGKB Accession ID=PA164920418
}}

{{omim
|id=613381
|rsnum=5742905
|variant=0004
}}

{{PMID Auto
|PMID=21567207
|Title=Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease
}}

{{ClinVar
|rsid=5742905
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=44483184
|CHROM=21
|dbSNPBuildID=114
|SSR=16
|SAO=1
|VP=0x050268000000040503110100
|GENEINFO=CBS:875
|GENE_NAME=CBS
|GENE_ID=875
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.44483184A>G
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=202; 613381.0004
|CLNSIG=5
|CLNCUI=CN068394
|CLNDBN=Homocystinuria, pyridoxine-responsive; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided
|Disease=Homocystinuria; HYPERHOMOCYSTEINEMIA; not provided
|CLNACC=RCV000000141.1; RCV000000142.1; RCV000078111.1
|Tags=RV;PM;PMC;S3D;VLD;HD;GNO;OTHERKG;PH3;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=CN068394
}}

{{PMID|19112534|OA=1
}} Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.

{{PMID|19330901|OA=1
}} Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

{{PMID|19493349|OA=1
}} 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.

{{PMID|19559392|OA=1
}} A candidate gene association study of 77 polymorphisms in migraine.

{{GET Evidence
|gene=CBS
|aa_change=Ile278Thr
|aa_change_short=I278T
|impact=pathogenic
|qualified_impact=High clinical importance, Likely pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs5742905
|overall_frequency_n=31
|overall_frequency_d=10758
|overall_frequency=0.00288158
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=6
|n_articles_annotated=6
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|in_pharmgkb=Y
|pph2_score=0.047
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|max_or_disease_name=Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
|max_or_case_pos=15
|max_or_case_neg=15
|max_or_control_pos=1
|max_or_control_neg=221
|max_or_or=221.000
|autoscore=4
|webscore=N
|n_web_uneval=10
|variant_evidence=2
|clinical_importance=1
|summary_short=This recessive mutation causes homocystinuria in a recessive manner and is found in patients responsive to pyridoxine treatment.
}}

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