Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Gln331Lys (p.Q331K)
(
ENST00000649624.1,
ENST00000629725.2,
ENST00000616545.4,
ENST00000639083.1,
ENST00000315091.7,
ENST00000700088.1,
ENST00000621790.4,
ENST00000240185.8 )
TARDBP p.Gln331Lys (p.Q331K) ( 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.991C>A (p.Gln331Lys) AND Amyotrophic lateral sclerosis type 10
- ClinVar Allele ID
- 20268
- ClinVar RefSeq Alternation Syntax
- NM_007375.4:c.991C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-03-21
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005540
- ClinVar Disease
- Amyotrophic lateral sclerosis type 10
- Observed Origin Sample
- germline
- Pubmed
- 18309045
Drugs