Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Asn390Asp (p.N390D)
(
ENST00000649624.1,
ENST00000629725.2,
ENST00000315091.7,
ENST00000616545.4,
ENST00000639083.1,
ENST00000621790.4,
ENST00000700088.1,
ENST00000240185.8 )
TARDBP p.Asn390Asp (p.N390D) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 ) - Associated Disease
- TARDBP-related disorder
- Source Database
- ClinVar
- Description
- NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp) AND TARDBP-related disorder
- ClinVar Allele ID
- 34329
- ClinVar RefSeq Alternation Syntax
- NM_007375.4:c.1168A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003407351
- ClinVar Disease
- TARDBP-related disorder
- Observed Origin Sample
- germline
Drugs