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Variant (rsID / SNP)

rs1057519691

PCSK9

rs1057519691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCSK9. Location: chromosome 1, position 55,509,631. 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
1:55509631
Cytoband
1p32.3
HGVS
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg)
Allele change
Missense_L108R

Associated conditions / phenotypes

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.