Variant (rsID / SNP)

rs76253513

rs76253513 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG8, PDF. Location: chromosome 16, position 69,364,990. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COG8Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:69364990
Cytoband: 16q22.1
HGVS: NM_032382.5(COG8):c.1591C>T (p.Pro531Ser)
Allele change: Missense_P531S

Associated conditions / phenotypes

COG8-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.