Variant (rsID / SNP)

rs1372204035

rs1372204035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCSK9. Location: chromosome 1, position 55,505,650. 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: 1:55505650
Cytoband: 1p32.3
HGVS: NM_174936.4(PCSK9):c.140C>G (p.Ser47Cys)
Allele change: Missense_S47C

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.