|| possible miscall in Ancestry V2.0 datasets; otherwise, Mild clinical homocystinuria which is responsive to vitamin B6
|| possible miscall in Ancestry V2.0 datasets; otherwise, carrier for Mild clinical homocystinuria which is responsive to vitamin B
|| common in clinvar
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|
] Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease
[PMID 19112534] Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
|| High clinical importance, Likely pathogenic
|| This recessive mutation causes homocystinuria in a recessive manner and is found in patients responsive to pyridoxine treatment.