Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Ala149Val (p.A149V)
(
ENST00000610854.2 )
NEFL p.Ala149Val (p.A149V) ( ENST00000610854.2 ) - Associated Disease
- Charcot-Marie-Tooth disease type 1F
- Source Database
- ClinVar
- Description
- NM_006158.5(NEFL):c.446C>T (p.Ala149Val) AND Charcot-Marie-Tooth disease type 1F
- ClinVar Allele ID
- 49661
- ClinVar RefSeq Alternation Syntax
- NM_006158.5:c.446C>T
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000034137
- ClinVar Disease
- Charcot-Marie-Tooth disease type 1F
- Observed Origin Sample
- unknown
Drugs