Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Asn352Ser (p.N352S)
(
ENST00000315091.7,
ENST00000240185.8,
ENST00000700088.1,
ENST00000616545.4,
ENST00000621790.4,
ENST00000629725.2,
ENST00000639083.1,
ENST00000649624.1 )
TARDBP p.Asn352Ser (p.N352S) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 ) - Associated Disease
- Amyotrophic Lateral Sclerosis, Sporadic
- Source Database
- DisGeNET
- Description
- An N352S mutation was found in one case of FALS, but no TARDBP mutations were found in cases of SALS.
- Pubmed
- 19411082
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00624316305784698
- Year of publication
- 2009
Drugs