Variant (rsID / SNP)

rs113642086

rs113642086 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG8. Location: chromosome 16, position 69,369,240. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COG8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:69369240
Cytoband: 16q22.1
HGVS: NM_032382.5(COG8):c.597C>T (p.Asn199=)
Allele change: Synonymous_N199N

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.