Variant (rsID / SNP)

rs190780604

rs190780604 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDOST. Location: chromosome 1, position 20,979,408. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DDOSTBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:20979408
Cytoband: 1p36.12
HGVS: NM_005216.5(DDOST):c.999C>T (p.Gly333=)
Allele change: Synonymous_G350G

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.