Disease: Congenital dyserythropoietic anemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918222
rs121918222
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B
CUI: C0002876
Disease:
Congenital dyserythropoietic anemia 		0.010 GeneticVariation BEFREE Compound heterozygous mutations in SEC23B gene were detected by the use of a gene-targeted next-generation sequencing panel: the already reported missense mutation c.40C>T (p.Arg14Trp), and a new frameshift deletion (c.489_489delG, p.Val164Trpfs*3), confirming the diagnosis of CDA type II. 29846281 2018