Annotation Detail
Information
- Associated Genes
- SHMT1
- Associated Variants
-
SHMT1 MUTATION
SHMT1 MUTATION
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group.
- Pubmed
- 22134752
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2012
Drugs