Annotation Detail
Information
- Associated Genes
- HRAS
- Associated Variants
-
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.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
- Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
- Pubmed
- 19206176
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.454657861092336
- Year of publication
- 2009
Drugs