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

Elliptocytosis 2

OMIM:130600
Mode of inheritance:Autosomal dominant
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolSPTA1
Reference transcriptNM_003126.2
DNA Changec.620T>C
A.A. Changep.Leu207Pro
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceDalla Venezia N, Wilmotte R, Morl? L, Forissier A, Parquet N, Garbarz M, Rousset T, Dhermy D, Alloisio N, Delaunay J.An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism.
Hum Genet. 1993 Feb;90(6):641-4.