Costello syndrome

OMIM:218040
Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities

Mutations

Gene Symbol	HRAS
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.

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