|
rs121918221
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.
|
25044164 |
2014 |
|
rs121918221
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
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.
|
21252497 |
2011 |
|
rs121918221
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
|
22208203 |
2011 |
|
rs121918221
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.
|
21850656 |
2011 |
|
rs121918221
|
|
|
0.810 |
GeneticVariation |
BEFREE |
E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.
|
21252497 |
2011 |
|
rs121918221
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
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.
|
20015893 |
2010 |
|
rs121918221
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
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).
|
19621418 |
2009 |
|
rs121918221
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
|
19561605 |
2009 |
|
rs121918221
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
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).
|
19621418 |
2009 |
|
rs121918221
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
|
19561605 |
2009 |
|
rs727504145
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.
|
23453696 |
2013 |
|
rs121918222
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.
|
21850656 |
2011 |
|
rs121918222
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
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.
|
20015893 |
2010 |
|
rs727504145
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.
|
20941788 |
2010 |
|
rs727504145
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
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.
|
20015893 |
2010 |
|
rs121918222
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
|
19561605 |
2009 |
|
rs121918222
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
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).
|
19621418 |
2009 |
|
rs121918222
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
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).
|
19621418 |
2009 |
|
rs121918222
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
|
19561605 |
2009 |
|
rs121918223
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
|
19561605 |
2009 |
|
rs121918223
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.
|
19621418 |
2009 |
|
rs727504145
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
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).
|
19621418 |
2009 |
|
rs727504145
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
|
19561605 |
2009 |
|
rs121918223
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs727504145
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|