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

C16orf57

Gene name: chromosome 16 open reading frame 57
OMIM ID: 613276
Chromosome location: 16q21

Mutations

Disease/PhenotypePoikiloderma with neutropenia
Reference transcriptNM_024598.3
DNA Changec.179delC
A.A. Changep.Pro60LeufsX55
Exon/Intronexon 2
Mutation Typedeletion
ReferenceMostefai R, Morice-Picard F, Boralevi F, Sautarel M, Lacombe D, Stasia MJ, McGrath J, Taieb A.Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.
Am J Med Genet A. 2008 Nov 1;146A(21):2762-9.