Annotation Detail
Information
- Associated Genes
- FBXL4
- Associated Variants
-
FBXL4 p.Gly568Ala (p.G568A)
(
ENST00000229971.2,
ENST00000369244.7 )
FBXL4 p.Asp565Gly (p.D565G) ( ENST00000229971.2, ENST00000369244.7 )
FBXL4 p.Gln519Ter (p.Q519*) ( ENST00000229971.2, ENST00000369244.7 )
FBXL4 p.Arg482Trp (p.R482W) ( ENST00000229971.2, ENST00000369244.7 )
FBXL4 p.Arg435Ter (p.R435*) ( ENST00000229971.2, ENST00000369244.7 )
FBXL4 p.Arg22Ter (p.R22*) ( ENST00000229971.2, ENST00000369244.7 )
FBXL4 p.Gly568Ala (p.G568A) ( ENST00000229971.2, ENST00000369244.7 )
FBXL4 p.Asp565Gly (p.D565G) ( ENST00000229971.2, ENST00000369244.7 )
FBXL4 p.Gln519Ter (p.Q519*) ( ENST00000229971.2, ENST00000369244.7 )
FBXL4 p.Arg482Trp (p.R482W) ( ENST00000229971.2, ENST00000369244.7 )
FBXL4 p.Arg435Ter (p.R435*) ( ENST00000229971.2, ENST00000369244.7 )
FBXL4 p.Arg22Ter (p.R22*) ( ENST00000229971.2, ENST00000369244.7 ) - Associated Disease
- MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs