Variant (rsID / SNP)

rs151309110

rs151309110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG2. Location: chromosome 1, position 230,805,279. Clinical significance in the table: Uncertain significance.

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Reference-table entries

COG2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:230805279
Cytoband: 1q42.2
HGVS: NM_007357.3(COG2):c.772G>A (p.Glu258Lys)
Allele change: Missense_E258K

Associated conditions / phenotypes

Congenital disorder of glycosylation, type IIq

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.