Variant (rsID / SNP)

rs267606740

rs267606740 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG4. Location: chromosome 16, position 70,515,300. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COG4Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:70515300
Cytoband: 16q22.1
HGVS: NM_015386.3(COG4):c.2197C>T (p.Arg733Trp)
Allele change: Missense_R733W

Associated conditions / phenotypes

COG4-congenital disorder of glycosylation|See cases

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.