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Variant (rsID / SNP)

rs137852912

PCSK9

rs137852912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCSK9. Location: chromosome 1, position 55,523,127. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PCSK9Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:55523127
Cytoband
1p32.3
HGVS
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr)
Allele change
Missense_D374H

Associated conditions / phenotypes

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

Public references

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