Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Pro8Arg (p.P8R)
(
ENST00000610854.2 )
NEFL p.Pro8Arg (p.P8R) ( ENST00000610854.2 )
NEFL p.Arg421= (p.R421=) ( ENST00000610854.2 )
NEFL p.Gln334Arg (p.Q334R) ( ENST00000610854.2 )
NEFL p.Gln334Pro (p.Q334P) ( ENST00000610854.2 )
NEFL p.Gln332Pro (p.Q332P) ( ENST00000610854.2 )
NEFL p.Leu94Pro (p.L94P) ( ENST00000610854.2 )
NEFL p.Pro22Ser (p.P22S) ( ENST00000610854.2 )
NEFL p.Pro22Thr (p.P22T) ( ENST00000610854.2 )
NEFL p.Arg421= (p.R421=) ( ENST00000610854.2 )
NEFL p.Gln334Arg (p.Q334R) ( ENST00000610854.2 )
NEFL p.Gln334Pro (p.Q334P) ( ENST00000610854.2 )
NEFL p.Gln332Pro (p.Q332P) ( ENST00000610854.2 )
NEFL p.Leu94Pro (p.L94P) ( ENST00000610854.2 )
NEFL p.Pro22Ser (p.P22S) ( ENST00000610854.2 )
NEFL p.Pro22Thr (p.P22T) ( ENST00000610854.2 ) - Associated Disease
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.480542883744161
- Year of publication
- NA
Drugs