Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs67608943

PCSK9

rs67608943 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCSK9. Location: chromosome 1, position 55,512,222. 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
1:55512222
Cytoband
1p32.3
HGVS
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter)
Allele change
Nonsense_Y142X

Associated conditions / phenotypes

Low density lipoprotein cholesterol level quantitative trait locus 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.