Variant (rsID / SNP)

rs142719529

rs142719529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG1. Location: chromosome 17, position 71,189,266. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COG1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:71189266
Cytoband: 17q25.1
HGVS: NM_018714.3(COG1):c.58G>C (p.Ala20Pro)
Allele change: Missense_A20P

Associated conditions / phenotypes

COG1 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.