Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Gln332Pro (p.Q332P)
(
ENST00000610854.2 )
NEFL p.Gln332Pro (p.Q332P) ( ENST00000610854.2 ) - Associated Disease
- Charcot-Marie-Tooth disease type 2E
- Source Database
- ClinVar
- Description
- NM_006158.5(NEFL):c.995A>C (p.Gln332Pro) AND Charcot-Marie-Tooth disease type 2E
- ClinVar Allele ID
- 29067
- ClinVar RefSeq Alternation Syntax
- NM_006158.5:c.995A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-11-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015072
- ClinVar Disease
- Charcot-Marie-Tooth disease type 2E
- Observed Origin Sample
- germline
- Pubmed
- 17881652
- Pubmed
- 10841809
Drugs