Variant (rsID / SNP)

rs117634838

rs117634838 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDOST. Location: chromosome 1, position 20,978,899. 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: 1:20978899
Cytoband: 1p36.12
HGVS: NM_005216.5(DDOST):c.1293C>T (p.His431=)
Allele change: Synonymous_H448H

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.