Variant (rsID / SNP)

rs28942112

rs28942112 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCSK9. Location: chromosome 1, position 55,518,073. Clinical significance in the table: Pathogenic.

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Reference-table entries

PCSK9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:55518073
Cytoband: 1p32.3
HGVS: NM_174936.4(PCSK9):c.646T>C (p.Phe216Leu)
Allele change: Missense_F216L

Associated conditions / phenotypes

Hypercholesterolemia, autosomal dominant, 3

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.