Variant: rs587777100

present in Gene: C15orf41 present in Chromosome: 15 Position on Chromosome: 36697379 Alleles of this Variant: T/A

rs587777100 in C15orf41 gene and ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib PMID 29885034 2018 Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene.

PMID 23716552 2013 Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.

PMID 31191338 2019 Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.