Variant (rsID / SNP)
rs35581984
rs35581984 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG5. Location: chromosome 7, position 106,888,867. Clinical significance in the table: Benign.
Reference-table entries
COG5Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:106888867
- Cytoband
- 7q22.3
- HGVS
- NM_006348.5(COG5):c.1827C>T (p.Ile609=)
- Allele change
- Synonymous_I640I
Associated conditions / phenotypes
COG5-congenital disorder of glycosylation
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.