Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Met992del (p.M992del)
(
ENST00000356175.7,
ENST00000358273.9,
ENST00000691014.1,
ENST00000696138.1 )
NF1 p.Glu1459del (p.E1459del) ( ENST00000358273.9, ENST00000356175.7, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Met992del (p.M992del) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Glu1459del (p.E1459del) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu316Met (p.L316M) ( ENST00000487476.5, ENST00000431387.8, ENST00000356175.7, ENST00000691014.1, ENST00000696138.1, ENST00000358273.9 )
NF1 p.Leu316Met (p.L316M) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu1411Phe (p.L1411F) ( ENST00000691014.1, ENST00000356175.7, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Leu1411Phe (p.L1411F) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.His1366AlafsTer13 (p.H1366Afs*13)
NF1 p.His1366AlafsTer13 (p.H1366Afs*13) - Associated Disease
- neurofibromatosis-Noonan syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.481900093104562
- Year of publication
- NA
Drugs