Annotation Detail
Information
- Associated Genes
- TFR2
- Associated Variants
-
TFR2 p.Gly792Arg (p.G792R)
(
ENST00000223051.8,
ENST00000431692.5,
ENST00000462107.1 )
TFR2 p.Arg455Gln (p.R455Q) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg396Ter (p.R396*) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Gly792Arg (p.G792R) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg455Gln (p.R455Q) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 p.Arg396Ter (p.R396*) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 ) - Associated Disease
- hemochromatosis
- Source Database
- DisGeNET
- Description
- Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.
- Pubmed
- 16424658
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.145860379674339
- Year of publication
- 2006
Drugs