Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Ala382Thr (p.A382T)
(
ENST00000240185.8,
ENST00000700088.1,
ENST00000621790.4,
ENST00000315091.7,
ENST00000616545.4,
ENST00000639083.1,
ENST00000649624.1,
ENST00000629725.2 )
TARDBP p.Ala382Thr (p.A382T) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 ) - Associated Disease
- amyotrophic lateral sclerosis type 10
- Source Database
- ClinVar
- Description
- NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) AND Amyotrophic lateral sclerosis type 10
- ClinVar Allele ID
- 34326
- ClinVar RefSeq Alternation Syntax
- NM_007375.4:c.1144G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2020-03-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000020663
- ClinVar Disease
- Amyotrophic lateral sclerosis type 10
- Observed Origin Sample
- germline
- Pubmed
- 19224587
- Pubmed
- 21220647
- Pubmed
- 20697052
Drugs