Variant (rsID / SNP)

rs74443110

rs74443110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG5. Location: chromosome 7, position 106,938,643. Clinical significance in the table: Benign.

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Reference-table entries

COG5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:106938643
Cytoband: 7q22.3
HGVS: NM_006348.5(COG5):c.1257A>G (p.Leu419=)
Allele change: Synonymous_L450L

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.