Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu508Pro (p.L508P)
(
ENST00000356175.7,
ENST00000691014.1,
ENST00000431387.8,
ENST00000487476.5,
ENST00000358273.9,
ENST00000696138.1 )
NF1 p.Leu508Pro (p.L508P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
- Pubmed
- 11258625
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.670236158889378
- Year of publication
- 1999
Drugs