Variant (rsID / SNP)

rs376663459

rs376663459 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG4. Location: chromosome 16, position 70,548,253. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

COG4Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:70548253
Cytoband: 16q22.1
HGVS: NM_015386.3(COG4):c.529C>T (p.Arg177Ter)
Allele change: Nonsense_R177X

Associated conditions / phenotypes

COG4-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.