Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Glu140Ter (p.E140*)
(
ENST00000610854.2 )
NEFL p.Glu140Ter (p.E140*) ( ENST00000610854.2 ) - Associated Disease
- Charcot-Marie-Tooth disease type 1F
- Source Database
- ClinVar
- Description
- NM_006158.5(NEFL):c.418G>T (p.Glu140Ter) AND Charcot-Marie-Tooth disease type 1F
- ClinVar Allele ID
- 29073
- ClinVar RefSeq Alternation Syntax
- NM_006158.5:c.418G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015079
- ClinVar Disease
- Charcot-Marie-Tooth disease type 1F
- Observed Origin Sample
- germline
- Pubmed
- 19158810
Drugs