Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Glu90Lys (p.E90K)
(
ENST00000610854.2 )
NEFL p.Glu90Lys (p.E90K) ( ENST00000610854.2 ) - Associated Disease
- Charcot-Marie-Tooth disease type 2E
- Source Database
- ClinVar
- Description
- NM_006158.5(NEFL):c.268G>A (p.Glu90Lys) AND Charcot-Marie-Tooth disease type 2E
- ClinVar Allele ID
- 77587
- ClinVar RefSeq Alternation Syntax
- NM_006158.5:c.268G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-08-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001854171
- ClinVar Disease
- Charcot-Marie-Tooth disease type 2E
- Observed Origin Sample
- germline
Drugs