Database

Disease	A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene	A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CREBBP

Gene name: CREB binding protein
OMIM ID: 600140
Chromosome location: 16p13.3

Disease/Phenotype	Rubinstein-Taybi syndrome
Reference transcript	NM_004380.2
DNA Change	c.4361T>A
A.A. Change	p.Leu1454His
Exon/Intron	exon 26
Mutation Type	substitution
Reference	Tajir M, Fergelot P, Lancelot G, Elalaoui SC, Arveiler B, Lacombe D, Sefiani A.Germline mosaicism in Rubinstein-Taybi syndrome. Gene. 2013 Jan 23. pii: S0378-1119(13)00043-7.