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rs5742905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 3.5 possible miscall in Ancestry V2.0 datasets; otherwise, Mild clinical homocystinuria which is responsive to vitamin B6
(C;T) 2.5 possible miscall in Ancestry V2.0 datasets; otherwise, carrier for Mild clinical homocystinuria which is responsive to vitamin B
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome21
Position43063074
GeneCBS
is asnp
is mentioned by
dbSNPrs5742905
ebirs5742905
HLIrs5742905
Exacrs5742905
Varsomers5742905
Maprs5742905
PheGenIrs5742905
hapmaprs5742905
1000 genomesrs5742905
hgdprs5742905
ensemblrs5742905
gopubmedrs5742905
geneviewrs5742905
scholarrs5742905
googlers5742905
pharmgkbrs5742905
gwascentralrs5742905
openSNPrs5742905
23andMers5742905
23andMe allrs5742905
SNP Nexus

SNPshotrs5742905
SNPdbers5742905
MSV3drs5742905
GWAS Ctlgrs5742905
Merged fromRs12329790
Max Magnitude3.5
Regarding Homocystinuria, the I278T mutation has been associated with B6 responsiveness and a

relatively mild clinical phenotype when homozygous.

Note: as of June 2016, we have noticed that this SNP may be miscalled in Ancestry V2.0 datasets.

? (C;C) (C;T) (T;T) 28


OMIM613381
Desc
Variant0004
Relatedalso


[PMID 21567207] Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease


ClinVar
Risk rs5742905(C;C)
Alt rs5742905(C;C)
Reference rs5742905(T;T)
Significance Pathogenic
Disease Homocystinuria HYPERHOMOCYSTEINEMIA not provided Homocystinuria due to CBS deficiency
Variation info
Gene CBS
CLNDBN Homocystinuria, pyridoxine-responsive HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED not provided Homocystinuria due to CBS deficiency
Reversed 1
HGVS NC_000021.8:g.44483184A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000141.4, RCV000000142.4, RCV000078111.5, RCV000173640.3,



[PMID 19112534OA-icon.png] Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.

[PMID 19330901OA-icon.png] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

[PMID 19493349OA-icon.png] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.

[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.


GET Evidence
CBS-I278T
aa_change Ile278Thr
aa_change_short I278T
impact pathogenic
qualified_impact High clinical importance, Likely pathogenic
overall_frequency 0.00288158
summary This recessive mutation causes homocystinuria in a recessive manner and is found in patients responsive to pyridoxine treatment.