Variant: rs121918221 

    present in Gene: SEC23B
    present in Chromosome: 20
    Position on Chromosome: 18515695
    Alleles of this Variant: G/A

rs121918221 in SEC23B gene and COWDEN SYNDROME 7 PMID 21850656 2011 Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.

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 21252497 2011 E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.

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

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

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.

rs121918221 in SEC23B gene and Congenital dyserythropoietic anemia, type II PMID 21850656 2011 Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.

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 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 21252497 2011 Most CDA II patients in Israel are of Moroccan Jewish origin and carry a common SEC23B mutation, E109K, the first to be described as a founder mutation causing CDA II.

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

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 22208203 2011 Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.