Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Cys93Tyr (p.C93Y)
(
ENST00000696138.1,
ENST00000358273.9,
ENST00000691014.1,
ENST00000356175.7,
ENST00000431387.8,
ENST00000487476.5,
ENST00000490416.2 )
NF1 p.Leu604= (p.L604=) ( ENST00000691014.1, ENST00000356175.7, ENST00000696138.1, ENST00000358273.9 )
NF1 p.Leu604Val (p.L604V) ( ENST00000358273.9, ENST00000696138.1, ENST00000356175.7, ENST00000691014.1 )
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.Leu898Pro (p.L898P) ( ENST00000696138.1, ENST00000358273.9, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Cys93Tyr (p.C93Y) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000490416.2, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu604= (p.L604=) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu604Val (p.L604V) ( 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.Leu898Pro (p.L898P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- These children exhibited a constitutional genetic instability associated with clinical features of de novo neurofibromatosis type 1 (NF1) and early onset of extracolonic cancer.
- Pubmed
- 12522551
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.670236158889378
- Year of publication
- 2003
Drugs