Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Lys1444Glu (p.K1444E)
(
ENST00000356175.7,
ENST00000358273.9,
ENST00000691014.1,
ENST00000696138.1 )
NF1 p.Lys1444Glu (p.K1444E) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis-Noonan syndrome
- Source Database
- DisGeNET
- Description
- NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
- Pubmed
- 11857752
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.481900093104562
- Year of publication
- 2002
Drugs