Annotation Detail
Information
- Associated Genes
- HRAS
- Associated Variants
-
HRAS p.Gly12Val (p.G12V)
(
ENST00000397594.7,
ENST00000311189.8,
ENST00000397596.6,
ENST00000417302.7,
ENST00000451590.5 )
HRAS p.Gly12Ala (p.G12A) ( ENST00000397596.6, ENST00000311189.8, ENST00000397594.7, ENST00000417302.7, ENST00000451590.5 )
HRAS p.Gly12Asp (p.G12D) ( ENST00000397596.6, ENST00000417302.7, ENST00000451590.5, ENST00000311189.8, ENST00000397594.7 )
HRAS p.Gly12Cys (p.G12C) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 )
HRAS p.Gly12Arg (p.G12R) ( ENST00000417302.7, ENST00000397596.6, ENST00000311189.8, ENST00000451590.5, ENST00000397594.7 )
HRAS p.Gly12Ser (p.G12S) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 )
HRAS p.Gly12Val (p.G12V) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 )
HRAS p.Gly12Ala (p.G12A) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 )
HRAS p.Gly12Asp (p.G12D) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 )
HRAS p.Gly12Cys (p.G12C) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 )
HRAS p.Gly12Arg (p.G12R) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 )
HRAS p.Gly12Ser (p.G12S) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 ) - Associated Disease
- Costello syndrome (disorder)
- Source Database
- DisGeNET
- Description
- Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
- Pubmed
- 22926243
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.454657861092336
- Year of publication
- 2012
Drugs