Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.His478Tyr (p.H478Y)
(
ENST00000541159.5,
ENST00000219596.6,
ENST00000339854.8,
ENST00000536379.5 )
MEFV p.His478Tyr (p.H478Y) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- Hereditary Autoinflammatory Diseases
- Source Database
- DisGeNET
- Description
- We conclude that the new H478Y MEFV mutation is the dominant pathological variant causing the inflammatory periodic syndrome in this kindred and that full-length analyses of the MEFV gene are needed to obtain an adequate diagnosis of patients with clinical suspicion of a hereditary periodic fever syndrome, especially those from non-ancestral populations.
- Pubmed
- 14679589
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00399568321108385
- Year of publication
- 2004
Drugs