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Variant (rsID / SNP)

rs1278890129

PCSK9

rs1278890129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCSK9. Location: chromosome 1, position 55,505,652. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PCSK9Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
1:55505652
Cytoband
1p32.3
HGVS
NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys)
Allele change
Missense_E48K

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1|Hypercholesterolemia, autosomal dominant, 3|Familial hypercholesterolemia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.