Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Asp169Gly (p.D169G)
(
ENST00000649624.1,
ENST00000629725.2,
ENST00000639083.1,
ENST00000616545.4,
ENST00000315091.7,
ENST00000621790.4,
ENST00000240185.8 )
TARDBP p.Gly290Ala (p.G290A) ( ENST00000649624.1, ENST00000629725.2, ENST00000616545.4, ENST00000639083.1, ENST00000315091.7, ENST00000621790.4, ENST00000700088.1, ENST00000240185.8 )
TARDBP p.Gly294Glu (p.G294E) ( ENST00000240185.8, ENST00000700088.1, ENST00000621790.4, ENST00000616545.4, ENST00000639083.1, ENST00000315091.7, ENST00000629725.2, ENST00000649624.1 )
TARDBP p.Gly294Ala (p.G294A) ( ENST00000629725.2, ENST00000649624.1, ENST00000616545.4, ENST00000639083.1, ENST00000315091.7, ENST00000700088.1, ENST00000621790.4, ENST00000240185.8 )
TARDBP p.Gly294Val (p.G294V) ( ENST00000700088.1, ENST00000621790.4, ENST00000240185.8, ENST00000629725.2, ENST00000649624.1, ENST00000315091.7, ENST00000616545.4, ENST00000639083.1 )
TARDBP p.Gly295Ser (p.G295S) ( ENST00000621790.4, ENST00000700088.1, ENST00000240185.8, ENST00000629725.2, ENST00000649624.1, ENST00000639083.1, ENST00000616545.4, ENST00000315091.7 )
TARDBP p.Gly295Arg (p.G295R) ( ENST00000240185.8, ENST00000621790.4, ENST00000700088.1, ENST00000315091.7, ENST00000639083.1, ENST00000616545.4, ENST00000649624.1, ENST00000629725.2 )
TARDBP p.Gly298Ser (p.G298S) ( ENST00000315091.7, ENST00000240185.8, ENST00000700088.1, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Ala315Thr (p.A315T) ( ENST00000629725.2, ENST00000649624.1, ENST00000315091.7, ENST00000616545.4, ENST00000639083.1, ENST00000700088.1, ENST00000621790.4, ENST00000240185.8 )
TARDBP p.Gln331Lys (p.Q331K) ( ENST00000649624.1, ENST00000629725.2, ENST00000616545.4, ENST00000639083.1, ENST00000315091.7, ENST00000700088.1, ENST00000621790.4, ENST00000240185.8 )
TARDBP p.Met337Val (p.M337V) ( ENST00000621790.4, ENST00000700088.1, ENST00000240185.8, ENST00000629725.2, ENST00000649624.1, ENST00000616545.4, ENST00000639083.1, ENST00000315091.7 )
TARDBP p.Gln343Arg (p.Q343R) ( ENST00000700088.1, ENST00000621790.4, ENST00000240185.8, ENST00000629725.2, ENST00000649624.1, ENST00000315091.7, ENST00000616545.4, ENST00000639083.1 )
TARDBP p.Gly348Cys (p.G348C) ( ENST00000700088.1, ENST00000621790.4, ENST00000240185.8, ENST00000649624.1, ENST00000629725.2, ENST00000639083.1, ENST00000616545.4, ENST00000315091.7 )
TARDBP p.Ala382Thr (p.A382T) ( ENST00000240185.8, ENST00000700088.1, ENST00000621790.4, ENST00000315091.7, ENST00000616545.4, ENST00000639083.1, ENST00000649624.1, ENST00000629725.2 )
TARDBP p.Ala382Pro (p.A382P) ( ENST00000639083.1, ENST00000616545.4, ENST00000315091.7, ENST00000629725.2, ENST00000649624.1, ENST00000240185.8, ENST00000700088.1, ENST00000621790.4 )
TARDBP p.Gly384Arg (p.G384R) ( ENST00000700088.1, ENST00000621790.4, ENST00000240185.8, ENST00000649624.1, ENST00000629725.2, ENST00000315091.7, ENST00000616545.4, ENST00000639083.1 )
TARDBP p.Trp385Gly (p.W385G) ( ENST00000240185.8, ENST00000700088.1, ENST00000621790.4, ENST00000315091.7, ENST00000639083.1, ENST00000616545.4, ENST00000649624.1, ENST00000629725.2 )
TARDBP c.*83T>C ( ENST00000616545.4, ENST00000639083.1, ENST00000315091.7, ENST00000629725.2, ENST00000649624.1, ENST00000240185.8, ENST00000700088.1, ENST00000621790.4 )
TARDBP c.*697G>A ( ENST00000315091.7, ENST00000639083.1, ENST00000240185.8, ENST00000700088.1 )
TARDBP p.Asp169Gly (p.D169G) ( ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly290Ala (p.G290A) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly294Glu (p.G294E) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly294Ala (p.G294A) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly294Val (p.G294V) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly295Ser (p.G295S) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly295Arg (p.G295R) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly298Ser (p.G298S) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Ala315Thr (p.A315T) ( ENST00000240185.8, ENST00000700088.1, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gln331Lys (p.Q331K) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Met337Val (p.M337V) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gln343Arg (p.Q343R) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly348Cys (p.G348C) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Ala382Thr (p.A382T) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Ala382Pro (p.A382P) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly384Arg (p.G384R) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Trp385Gly (p.W385G) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP c.*83T>C ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP c.*697G>A ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000639083.1 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs