Variant: rs398124226 

    present in Gene: SEC23B
    present in Chromosome: 20
    Position on Chromosome: 18525021
    Alleles of this Variant: G/A;C

rs398124226 in SEC23B gene and Congenital dyserythropoietic anemia, type II PMID 19621418 2009 Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

PMID 25044164 2014 Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.

PMID 19561605 2009 Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

rs398124226 in SEC23B gene and Familial Mediterranean Fever PMID 25044164 2014 Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.

PMID 19621418 2009 Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

PMID 19561605 2009 Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.