Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
TCN2 p.Arg259His (p.R259H) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg259Pro (p.R259P) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg259His (p.R259H) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg259Pro (p.R259P) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
Associated Disease
glioblastoma
Source Database
DisGeNET
Description
We investigated MTR c.2756A>G, MTHFR c.677C>T, and a third polymorphism, transcobalamin 2 c.776C>G (P259R), for a potential association with the formation of glioblastoma multiforme.
Pubmed
17119065
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00863005807977728
Year of publication
2006
Drugs