Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Arg1412Ser (p.R1412S)
(
ENST00000358273.9,
ENST00000356175.7,
ENST00000691014.1,
ENST00000696138.1 )
NF1 p.Lys1440Gln (p.K1440Q) ( ENST00000356175.7, ENST00000691014.1, ENST00000696138.1, ENST00000358273.9 )
NF1 p.Arg1412Ser (p.R1412S) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Lys1440Gln (p.K1440Q) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
- Pubmed
- 9003501
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.670236158889378
- Year of publication
- 1997
Drugs