Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Glu140Lys (p.E140K)
(
ENST00000610854.2 )
NEFL p.Glu140Lys (p.E140K) ( ENST00000610854.2 ) - Associated Disease
- Charcot-Marie-Tooth disease, dominant intermediate G
- Source Database
- ClinVar
- Description
- NM_006158.5(NEFL):c.418G>A (p.Glu140Lys) AND Charcot-Marie-Tooth disease, dominant intermediate G
- ClinVar Allele ID
- 567738
- ClinVar RefSeq Alternation Syntax
- NM_006158.5:c.418G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-02-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002289963
- ClinVar Disease
- Charcot-Marie-Tooth disease, dominant intermediate G
- Observed Origin Sample
- germline
Drugs