Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Asn98Ser (p.N98S)
(
ENST00000610854.2 )
NEFL p.Asn98Ser (p.N98S) ( ENST00000610854.2 ) - Associated Disease
- Charcot-Marie-Tooth disease, dominant intermediate G Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2E
- Source Database
- ClinVar
- Description
- NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) AND multiple conditions
- ClinVar Allele ID
- 49660
- ClinVar RefSeq Alternation Syntax
- NM_006158.5:c.293A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-05-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001027680
- ClinVar Disease
- Charcot-Marie-Tooth disease type 2E
- ClinVar Disease
- Charcot-Marie-Tooth disease, dominant intermediate G
- ClinVar Disease
- Charcot-Marie-Tooth disease type 1F
- Observed Origin Sample
- de novo
Drugs