Annotation Detail

Information
Associated Genes
TFR2
Associated Variants
TFR2 p.Arg678Pro (p.R678P) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg455Gln (p.R455Q) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg678Pro (p.R678P) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg455Gln (p.R455Q) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
Associated Disease
Hereditary hemochromatosis
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.125428837441606
Year of publication
NA
Drugs