Variant (rsID / SNP)

rs117208167

rs117208167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG1. Location: chromosome 17, position 71,193,525. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COG1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:71193525
Cytoband: 17q25.1
HGVS: NM_018714.3(COG1):c.903G>C (p.Gln301His)
Allele change: Missense_Q301H

Associated conditions / phenotypes

COG1 congenital disorder of glycosylation

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.