Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR MUTATION
MTHFR MUTATION
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- Cardiovascular Diseases
- Source Database
- DisGeNET
- Description
- Genetic variation in folate-mediated one-carbon metabolism, other than the well-known effects of the MTHFR c.665C>T (known as c.677 C>T, rs1801133, p.Ala222Val), is predictive of cardiovascular disease biomarkers.
- Pubmed
- 22103680
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.244595919194483
- Year of publication
- 2011
Drugs