Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Arg761His (p.R761H)
(
ENST00000219596.6,
ENST00000536379.5,
ENST00000541159.5,
ENST00000339854.8 )
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.Met694Ile (p.M694I) ( ENST00000339854.8, ENST00000541159.5, ENST00000219596.6, ENST00000536379.5 )
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.Pro369Ser (p.P369S) ( ENST00000219596.6, ENST00000541159.5, ENST00000339854.8, ENST00000536379.5 )
MEFV p.Pro369Thr (p.P369T) ( ENST00000536379.5, ENST00000219596.6, ENST00000339854.8, ENST00000541159.5 )
MEFV p.Glu148Gln (p.E148Q) ( ENST00000541159.5, ENST00000339854.8, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Arg761His (p.R761H) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
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.Met694Ile (p.M694I) ( 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 )
MEFV p.Pro369Ser (p.P369S) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Pro369Thr (p.P369T) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Glu148Gln (p.E148Q) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- DisGeNET
- Description
- Eight MEFV gene variants (M694I, M694V, M680I (G/C-A), V726A, R761H, E148Q and P369S) were analyzed in 33 MDS patients, 47 AML patients and 65 healthy controls; none had a history or family history compatible with FMF.
- Pubmed
- 22351163
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- 2012
Drugs