Variant (rsID / SNP)

rs79413133

rs79413133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG5. Location: chromosome 7, position 107,167,769. 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: 7:107167769
Cytoband: 7q22.3
HGVS: NM_006348.5(COG5):c.451A>G (p.Ile151Val)
Allele change: Missense_I182V

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.