C16orf57

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

Mutations

Disease/Phenotype	Poikiloderma with neutropenia
Reference transcript	NM_024598.3
DNA Change	c.179delC
A.A. Change	p.Pro60LeufsX55
Exon/Intron	exon 2
Mutation Type	deletion
Reference	Mostefai 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.

---