Annotation Detail

Information
Associated Genes
NF1
Associated Variants
NF1 c.1642-8A>G ( ENST00000696138.1, ENST00000358273.9, ENST00000356175.7, ENST00000691014.1, ENST00000431387.8 )
NF1 p.Trp1559Ter (p.W1559*) ( ENST00000358273.9, ENST00000696138.1, ENST00000691014.1, ENST00000356175.7 )
NF1 c.1642-8A>G ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Trp1559Ter (p.W1559*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
Associated Disease
juvenile myelomonocytic leukemia
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.443800186209124
Year of publication
NA
Drugs