Annotation Detail
Information
- Associated Genes
- TFR2
- Associated Variants
-
TFR2 p.Tyr250Ter (p.Y250*)
(
ENST00000223051.8,
ENST00000431692.5,
ENST00000462107.1 )
TFR2 p.Tyr250Ter (p.Y250*) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 ) - Associated Disease
- hemochromatosis
- Source Database
- DisGeNET
- Description
- A rapid PCR-SSP assay for the hemochromatosis-associated Tyr250Stop mutation in the TFR2 gene.
- Pubmed
- 11551099
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.145860379674339
- Year of publication
- 2001
Drugs