Annotation Detail
Information
- Associated Genes
- MTHFD1
- Associated Variants
-
MTHFD1 p.Arg653Gln (p.R653Q)
(
ENST00000557539.2,
ENST00000697174.1,
ENST00000554768.6,
ENST00000697173.1,
ENST00000545908.6,
ENST00000557370.3,
ENST00000652337.1,
ENST00000697168.1 )
MTHFD1 p.Arg653Gln (p.R653Q) ( ENST00000545908.6, ENST00000554768.6, ENST00000557370.3, ENST00000557539.2, ENST00000652337.1, ENST00000697168.1, ENST00000697173.1, ENST00000697174.1 ) - Associated Disease
- congenital heart defects
- Source Database
- DisGeNET
- Description
- The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
- Pubmed
- 18767138
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.007915421552047
- Year of publication
- 2009
Drugs