Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Arg1968Ter (p.R1968*)
(
ENST00000356175.7,
ENST00000358273.9,
ENST00000684826.1,
ENST00000687027.1,
ENST00000691014.1,
ENST00000693617.1,
ENST00000696138.1 )
NF1 p.Arg1968Ter (p.R1968*) ( ENST00000691014.1, ENST00000693617.1, ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1.
- Pubmed
- 16117786
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.670236158889378
- Year of publication
- 2005
Drugs