Variant (rsID / SNP)

rs184902233

rs184902233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG5. Location: chromosome 7, position 106,938,610. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COG5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:106938610
Cytoband: 7q22.3
HGVS: NM_006348.5(COG5):c.1290C>A (p.Phe430Leu)
Allele change: Missense_F461L

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.