Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Pro8Arg (p.P8R)
(
ENST00000610854.2 )
NEFL p.Pro8Arg (p.P8R) ( ENST00000610854.2 )
NEFL p.Glu210Ter (p.E210*) ( ENST00000610854.2 )
NEFL p.Ala149Val (p.A149V) ( ENST00000610854.2 )
NEFL p.Glu140Ter (p.E140*) ( ENST00000610854.2 )
NEFL p.Glu140Lys (p.E140K) ( ENST00000610854.2 )
NEFL p.Asn98Ser (p.N98S) ( ENST00000610854.2 )
NEFL p.Pro22Arg (p.P22R) ( ENST00000610854.2 )
NEFL p.Pro22Ser (p.P22S) ( ENST00000610854.2 )
NEFL p.Pro22Thr (p.P22T) ( ENST00000610854.2 )
NEFL p.Glu210Ter (p.E210*) ( ENST00000610854.2 )
NEFL p.Ala149Val (p.A149V) ( ENST00000610854.2 )
NEFL p.Glu140Ter (p.E140*) ( ENST00000610854.2 )
NEFL p.Glu140Lys (p.E140K) ( ENST00000610854.2 )
NEFL p.Asn98Ser (p.N98S) ( ENST00000610854.2 )
NEFL p.Pro22Arg (p.P22R) ( ENST00000610854.2 )
NEFL p.Pro22Ser (p.P22S) ( ENST00000610854.2 )
NEFL p.Pro22Thr (p.P22T) ( ENST00000610854.2 ) - Associated Disease
- Charcot-Marie-Tooth disease, demyelinating, Type 1F
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- NA
Drugs