Disease: Congenital dyserythropoietic anemia, type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201270568
rs201270568
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B
CUI: C1306589
Disease:
Congenital dyserythropoietic anemia, type II 		0.700 GeneticVariation UNIPROT Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 19561605 2009
dbSNP: rs201270568
rs201270568
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B
CUI: C1306589
Disease:
Congenital dyserythropoietic anemia, type II 		0.700 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