Variant (rsID / SNP)

rs142169776

rs142169776 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG8. Location: chromosome 16, position 69,368,758. Clinical significance in the table: Uncertain significance.

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Reference-table entries

COG8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:69368758
Cytoband: 16q22.1
HGVS: NM_032382.5(COG8):c.1079G>A (p.Gly360Glu)
Allele change: Missense_G360E

Associated conditions / phenotypes

COG8-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.