Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Val726Ala (p.V726A)
(
ENST00000536379.5,
ENST00000541159.5,
ENST00000219596.6,
ENST00000339854.8 )
MEFV p.Val726Asp (p.V726D) ( ENST00000536379.5, ENST00000219596.6, ENST00000339854.8, ENST00000541159.5 )
MEFV p.Met680Ile (p.M680I) ( ENST00000541159.5, ENST00000339854.8, ENST00000219596.6, ENST00000536379.5 )
MEFV p.Met680Ile (p.M680I) ( ENST00000339854.8, ENST00000541159.5, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Val726Ala (p.V726A) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Val726Asp (p.V726D) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Met680Ile (p.M680I) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Met680Ile (p.M680I) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- DisGeNET
- Description
- The MEFV gene involved in familial Mediterranean fever was recently cloned and four distinct sequence alterations (M680I, M694V, M6941 and V726A) were identified at the 3'-most exon.
- Pubmed
- 10447272
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- 1999
Drugs