Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Glu140Ter (p.E140*)
(
ENST00000610854.2 )
NEFL p.Glu140Ter (p.E140*) ( ENST00000610854.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_006158.5(NEFL):c.418G>T (p.Glu140Ter) AND not provided
- ClinVar Allele ID
- 29073
- ClinVar RefSeq Alternation Syntax
- NM_006158.5:c.418G>T
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000057137
- ClinVar Disease
- not provided
- Observed Origin Sample
- not provided
Drugs