Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu2164Met (p.L2164M)
(
ENST00000696138.1,
ENST00000693617.1,
ENST00000358273.9,
ENST00000684826.1,
ENST00000687027.1,
ENST00000691014.1,
ENST00000356175.7 )
NF1 p.Leu2164Met (p.L2164M) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
- Pubmed
- 1302608
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.670236158889378
- Year of publication
- 1992
Drugs