Variant: rs121918222 

    present in Gene: SEC23B
    present in Chromosome: 20
    Position on Chromosome: 18510875
    Alleles of this Variant: C/T

rs121918222 in SEC23B gene and Congenital dyserythropoietic anemia, type II PMID 19621418 2009 Sequencing analysis of SEC23B gene in 13 CDAII patients from 10 families revealed 12 different mutations: six missense (c.40C>T, c.325G>A, c.1043A>C, c.1489C>T, c.1808C>T, and c.2101C>T), two frameshift (c.428_428delAinsCG and c.1821delT), one splicing (c.689+1G>A), and three nonsense (c.568C>T, c.649C>T, and c.1660C>T).

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

PMID 20015893 2010 Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

PMID 21850656 2011 Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.

rs121918222 in SEC23B gene and ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 PMID 19561605 2009 Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

PMID 20015893 2010 Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

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

PMID 21850656 2011 Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.