Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Gln334Pro (p.Q334P)
(
ENST00000610854.2 )
NEFL p.Gln334Pro (p.Q334P) ( ENST00000610854.2 ) - Associated Disease
- Charcot-Marie-Tooth disease type 2E
- Source Database
- ClinVar
- Description
- NM_006158.5(NEFL):c.1001A>C (p.Gln334Pro) AND Charcot-Marie-Tooth disease type 2E
- ClinVar Allele ID
- 49659
- ClinVar RefSeq Alternation Syntax
- NM_006158.5:c.1001A>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000034135
- ClinVar Disease
- Charcot-Marie-Tooth disease type 2E
- Observed Origin Sample
- unknown
Drugs