Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP c.*697G>A
(
ENST00000315091.7,
ENST00000639083.1,
ENST00000240185.8,
ENST00000700088.1 )
TARDBP c.*697G>A ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000639083.1 ) - Associated Disease
- FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
- Source Database
- ClinVar
- Description
- NM_007375.4(TARDBP):c.*697G>A AND FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
- ClinVar Allele ID
- 20278
- ClinVar RefSeq Alternation Syntax
- NM_007375.4:c.*697G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005551
- ClinVar Disease
- FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
- Observed Origin Sample
- germline
- Pubmed
- 19618195
Drugs