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

CRYGD

Gene name: crystallin, gamma D
OMIM ID: 123690
Chromosome location: 2q33.3

Mutations

Disease/PhenotypeCataract Congenital Cerulean, Type 3
Reference transcriptNM_006891.3
DNA Changec.70C>A
A.A. Changep.Pro24Thr
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceNandrot E, Slingsby C, Basak A, Cherif-Chefchaouni M, Benazzouz B, Hajaji Y, Boutayeb S, Gribouval O, Arbogast L, Berraho A, Abitbol M, Hilal L.Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.
J Med Genet. 2003 Apr;40(4):262-7.