|| common in clinvar
|?|| (C;C) (C;T) (T;T) ||28|
| Disease Association
|| Defects in DPAGT1 are the cause of congenital disorder of glycosylation type Ij (CDG-Ij) (MIM:608093). Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins and are caused by mutations in genes encoding proteins involved in the stepwise assembly of dolichol- oligosaccharide used for protein N-glycosylation.
[PMID 21512825] Possible association between genetic variants in the H2AFX promoter region and risk of adult glioma in a Chinese Han population
[PMID 17851762] Genetic variants in the H2AFX promoter region are associated with risk of sporadic breast cancer in non-Hispanic white women aged <or=55 years.
[PMID 18638378] Analysis of variants in DNA damage signalling genes in bladder cancer.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 24069324] Sex- and Subtype-Specific Analysis of H2AFX Polymorphisms in Non-Hodgkin Lymphoma