Mendelian Diseases
Multifactorial Diseases
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

Dyserythropoietic anemia, congenital, type II

OMIM:224100
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolSEC23B
Reference transcriptNM_006363.4
DNA Changec.325G>A
A.A. Changep.Glu109Lys
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceAmir A, Dgany O, Krasnov T, Resnitzky P, Mor-Cohen R, Bennett M, Berrebi A, Tamary H.E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.
Acta Haematol. 2011;125(4):202-7.