Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs509504

PCSK9

rs509504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCSK9. Location: chromosome 1, position 55,523,033. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PCSK9Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:55523033
Cytoband
1p32.3
HGVS
NM_174936.4(PCSK9):c.1026A>G (p.Gln342_Asp343=)
Allele change
Synonymous_Q342Q

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.