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Variant (rsID / SNP)

rs28385701

PCSK9

rs28385701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCSK9. Location: chromosome 1, position 55,505,651. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PCSK9Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:55505651
Cytoband
1p32.3
HGVS
NM_174936.4(PCSK9):c.141C>T (p.Ser47=)
Allele change
Synonymous_S47S

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1|Hypobetalipoproteinemia|Hypercholesterolemia, autosomal dominant, 3

Public references

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