Variant (rsID / SNP)

rs72795277

rs72795277 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG8. Location: chromosome 16, position 69,368,820. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COG8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:69368820
Cytoband: 16q22.1
HGVS: NM_032382.5(COG8):c.1017C>T (p.Gly339=)
Allele change: Synonymous_G339G

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.