Variant (rsID / SNP)

rs116603307

rs116603307 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG5. Location: chromosome 7, position 107,013,140. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COG5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:107013140
Cytoband: 7q22.3
HGVS: NM_006348.5(COG5):c.735T>A (p.Ile245=)
Allele change: Synonymous_I276I

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.