Variant (rsID / SNP)

rs113455884

rs113455884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG4. Location: chromosome 16, position 70,517,824. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COG4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:70517824
Cytoband: 16q22.1
HGVS: NM_015386.3(COG4):c.1759C>A (p.Gln587Lys)
Allele change: Missense_Q587K

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.