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