Variant (rsID / SNP)

rs74526704

rs74526704 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDOST. Location: chromosome 1, position 20,979,148. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DDOSTUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:20979148
Cytoband: 1p36.12
HGVS: NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln)
Allele change: Missense_R396Q

Associated conditions / phenotypes

Congenital disorder of glycosylation type Ir

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.