Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Pro8Arg (p.P8R)
(
ENST00000610854.2 )
NEFL p.Pro8Arg (p.P8R) ( ENST00000610854.2 ) - Associated Disease
- Charcot-Marie-Tooth disease type 2E
- Source Database
- ClinVar
- Description
- NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) AND Charcot-Marie-Tooth disease type 2E
- ClinVar Allele ID
- 29069
- ClinVar RefSeq Alternation Syntax
- NM_006158.5:c.22_23delinsAG
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-12-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015074
- ClinVar Disease
- Charcot-Marie-Tooth disease type 2E
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Pubmed
- 15282209
- Pubmed
- 12566280
- Pubmed
- 17881652
- Pubmed
- 17620486
- Pubmed
- 11220745
Drugs