Annotation Detail
Information
- Associated Genes
- FUS
- Associated Variants
-
FUS p.Arg495Ter (p.R495*)
(
ENST00000254108.12,
ENST00000715542.1,
ENST00000568685.1,
ENST00000380244.8 )
FUS p.Arg495Ter (p.R495*) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 ) - Associated Disease
- amyotrophic lateral sclerosis
- Source Database
- DisGeNET
- Description
- We present the first case of an ALS patient carrying a de novo nonsense mutation in exon 14 of the FUS gene (c.1483c>t; p.R495X) with an apparently familial ALS.
- Pubmed
- 24439481
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.185991507612158
- Year of publication
- 2013
Drugs