Variant (rsID / SNP)

rs72646508

rs72646508 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCSK9. Location: chromosome 1, position 55,518,422. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PCSK9Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:55518422
Cytoband: 1p32.3
HGVS: NM_174936.4(PCSK9):c.757C>T (p.Leu253Phe)
Allele change: Missense_L253F

Associated conditions / phenotypes

Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, 3

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.