Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR MUTATION
MTHFR MUTATION
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
MTHFR p.Gly354Ala (p.G354A) ( ENST00000376585.6, ENST00000641820.1, ENST00000423400.7, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000641407.1 )
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 )
ABCG2 p.Gln141Lys (p.Q141K) ( ENST00000237612.8, ENST00000515655.5, ENST00000650821.1 )
GSTK1 p.Ala105Thr (p.A105T) ( ENST00000358406.10, ENST00000409500.7, ENST00000443571.6, ENST00000479303.1 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
MTHFR p.Gly354Ala (p.G354A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
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 )
ABCG2 p.Gln141Lys (p.Q141K) ( ENST00000237612.8, ENST00000515655.5, ENST00000650821.1 )
GSTK1 p.Ala105Thr (p.A105T) ( ENST00000358406.10, ENST00000409500.7, ENST00000443571.6, ENST00000479303.1 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing.
- Pubmed
- 17180579
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.100901024150183
- Year of publication
- 2007
Drugs