Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Gly295Arg (p.G295R)
(
ENST00000240185.8,
ENST00000621790.4,
ENST00000700088.1,
ENST00000315091.7,
ENST00000639083.1,
ENST00000616545.4,
ENST00000649624.1,
ENST00000629725.2 )
TARDBP p.Gly295Arg (p.G295R) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg) AND not provided
- ClinVar Allele ID
- 34338
- ClinVar RefSeq Alternation Syntax
- NM_007375.4:c.883G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-02-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002474373
- ClinVar Disease
- not provided
- Observed Origin Sample
- unknown
Drugs