{{Rsnum
|rsid=643788
|Gene=DPAGT1
|Chromosome=11
|position=119097048
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4302
|Gene_s=DPAGT1,H2AFX
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 16.8 | 58.4 | 24.8
| HCB | 41.6 | 41.6 | 16.8
| JPT | 36.3 | 49.6 | 14.2
| YRI | 6.8 | 38.8 | 54.4
| ASW | 3.5 | 40.4 | 56.1
| CHB | 41.6 | 41.6 | 16.8
| CHD | 45.0 | 37.6 | 17.4
| GIH | 31.7 | 43.6 | 24.8
| LWK | 5.5 | 40.0 | 54.5
| MEX | 13.8 | 48.3 | 37.9
| MKK | 9.6 | 41.7 | 48.7
| TSI | 21.6 | 52.0 | 26.5
| HapMapRevision=28
}}{{Venter SNP
|rsid=643788
|allele=C
|frequency=0.467
|uid=1103649805114
|type=heterozygous_SNP
|hugo=DPAGT1
|ensembl gene=ENSG00000172269
|ensembl transcript=ENST00000361903
|sift=TOLERATED
|disease=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 Auto
|PMID=21512825
|Title=Possible association between genetic variants in the H2AFX promoter region and risk of adult glioma in a Chinese Han population
}}

{{PMID Auto
|PMID=17851762
|Title=Genetic variants in the H2AFX promoter region are associated with risk of sporadic breast cancer in non-Hispanic white women aged <or=55 years.
|OA=1
}}

{{PMID Auto
|PMID=18638378
|Title=Analysis of variants in DNA damage signalling genes in bladder cancer.
|OA=1
}}

{{GET Evidence
|gene=DPAGT1
|aa_change=Ile393Val
|aa_change_short=I393V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs643788
|overall_frequency_n=4197
|overall_frequency_d=10758
|overall_frequency=0.390128
|n_genomes=30
|n_genomes_annotated=0
|n_haplomes=37
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=3
|n_web_uneval=1
}}

{{PMID Auto
|PMID=24069324
|Title=Sex- and Subtype-Specific Analysis of H2AFX Polymorphisms in Non-Hodgkin Lymphoma
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}