Variant (rsID / SNP)

rs189560910

rs189560910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG5. Location: chromosome 7, position 106,938,689. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COG5Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:106938689
Cytoband: 7q22.3
HGVS: NM_006348.5(COG5):c.1211A>G (p.Gln404Arg)
Allele change: Missense_Q435R

Associated conditions / phenotypes

COG5-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.