Annotation Detail
Information
- Associated Genes
- TFR2
- Associated Variants
-
TFR2 p.Gln317Ter (p.Q317*)
(
ENST00000223051.8,
ENST00000431692.5,
ENST00000462107.1 )
TFR2 p.Gln317Ter (p.Q317*) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 ) - Associated Disease
- Hereditary hemochromatosis
- Source Database
- DisGeNET
- Description
- A 21-year-old brother with a milder phenotype resembling classic adult-onset hereditary hemochromatosis carried only the Q317X serum transferrin receptor 2 homozygote mutation.
- Pubmed
- 15685557
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.125428837441606
- Year of publication
- 2005
Drugs