Annotation Detail
Information
- Associated Genes
- SLC19A1
- Associated Variants
-
SLC19A1 MUTATION
SLC19A1 MUTATION
SLC19A1 p.Ala344Val (p.A344V) ( ENST00000311124.9, ENST00000380010.8, ENST00000485649.3, ENST00000567670.5, ENST00000650808.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
SLC19A1 p.Ala344Val (p.A344V) ( ENST00000311124.9, ENST00000380010.8, ENST00000485649.3, ENST00000567670.5, ENST00000650808.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 ) - Associated Disease
- Cerebrovascular accident
- Source Database
- DisGeNET
- Description
- Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke.
- Pubmed
- 18958479
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00527694770136467
- Year of publication
- 2009
Drugs