HRAS
Gene name: v-Ha-ras Harvey rat sarcoma viral oncogene homologOMIM ID: 190020
Chromosome location: 11p15.5
Mutations
Disease/Phenotype | Costello syndrome |
---|---|
Reference transcript | NM_176795.3 |
DNA Change | c.34G>A |
A.A. Change | p.Gly12Ser |
Exon/Intron | exon 1 |
Mutation Type | substitution |
Reference | Tajir M, Fergelot P, Lancelot G, Arveiler B, Elalaoui SC, Lacombe D, Sefiani A.[Costello syndrome: report of a case]. Pan Afr Med J. 2012;12:64. |