Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.His31Arg (p.H31R)
(
ENST00000696138.1,
ENST00000358273.9,
ENST00000691014.1,
ENST00000356175.7,
ENST00000487476.5,
ENST00000431387.8 )
NF1 p.Leu145Pro (p.L145P) ( ENST00000358273.9, ENST00000696138.1, ENST00000490416.2, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000356175.7 )
NF1 p.Cys324Arg (p.C324R) ( ENST00000696138.1, ENST00000358273.9, ENST00000487476.5, ENST00000431387.8, ENST00000691014.1, ENST00000356175.7 )
NF1 p.Glu337Val (p.E337V) ( ENST00000696138.1, ENST00000358273.9, ENST00000487476.5, ENST00000431387.8, ENST00000691014.1, ENST00000356175.7 )
NF1 p.Tyr489Cys (p.Y489C) ( ENST00000431387.8, ENST00000356175.7, ENST00000358273.9, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu532Pro (p.L532P) ( ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000356175.7, ENST00000696138.1, ENST00000358273.9 )
NF1 p.Gly629Arg (p.G629R) ( ENST00000358273.9, ENST00000356175.7, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu844Pro (p.L844P) ( ENST00000358273.9, ENST00000696138.1, ENST00000691014.1, ENST00000356175.7 )
NF1 p.Leu844Arg (p.L844R) ( ENST00000358273.9, ENST00000696138.1, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Met1073Val (p.M1073V) ( ENST00000358273.9, ENST00000356175.7, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu1196Arg (p.L1196R) ( ENST00000356175.7, ENST00000696138.1, ENST00000358273.9, ENST00000691014.1 )
NF1 p.Arg1276Gly (p.R1276G) ( ENST00000696138.1, ENST00000358273.9, ENST00000691014.1, ENST00000356175.7 )
NF1 p.Arg1276Ter (p.R1276*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Ser1489Gly (p.S1489G) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.His31Arg (p.H31R) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu145Pro (p.L145P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000490416.2, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Cys324Arg (p.C324R) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Glu337Val (p.E337V) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Tyr489Cys (p.Y489C) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu532Pro (p.L532P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Gly629Arg (p.G629R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu844Pro (p.L844P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu844Arg (p.L844R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Met1073Val (p.M1073V) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu1196Arg (p.L1196R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1276Gly (p.R1276G) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1276Ter (p.R1276*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Ser1489Gly (p.S1489G) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
- Pubmed
- 15060124
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.670236158889378
- Year of publication
- 2004
Drugs