Annotation Detail
Information
- Associated Genes
- KRAS
- 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 )
KRAS p.Gly12Cys (p.G12C) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gly12Arg (p.G12R) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000692768.1, ENST00000686969.1, ENST00000688940.1, ENST00000693229.1 )
KRAS p.Gly12Ser (p.G12S) ( ENST00000685328.1, ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
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 )
KRAS p.Gly12Cys (p.G12C) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gly12Arg (p.G12R) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gly12Ser (p.G12S) ( ENST00000256078.10, ENST00000311936.8, ENST00000685328.1, ENST00000686969.1, ENST00000556131.2, ENST00000557334.6, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 ) - Associated Disease
- Costello syndrome (disorder)
- Source Database
- DisGeNET
- Description
- We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene).
- Pubmed
- 17324647
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.122171534976642
- Year of publication
- 2007
Drugs