Variant (rsID / SNP)

rs1254346075

rs1254346075 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCSK9. Location: chromosome 1, position 55,523,181. Clinical significance in the table: Pathogenic.

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Reference-table entries

PCSK9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:55523181
Cytoband: 1p32.3
HGVS: NM_174936.4(PCSK9):c.1174G>A (p.Val392Met)
Allele change: Missense_V392M

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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