Annotation Detail
Information
- Associated Genes
- NRAS
- Associated Variants
-
NRAS p.Gly13Val (p.G13V)
(
ENST00000369535.5 )
NRAS p.Gly13Ala (p.G13A) ( ENST00000369535.5 )
NRAS p.Gly13Asp (p.G13D) ( ENST00000369535.5 )
NRAS p.Gly13Val (p.G13V) ( ENST00000369535.5 )
NRAS p.Gly13Ala (p.G13A) ( ENST00000369535.5 )
NRAS p.Gly13Asp (p.G13D) ( ENST00000369535.5 ) - Associated Disease
- Hematologic Neoplasms
- Source Database
- DisGeNET
- Description
- We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis.
- Pubmed
- 17517660
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2007
Drugs