Variant (rsID / SNP)

rs137852824

rs137852824 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCSK1. Location: chromosome 5, position 95,746,653. Clinical significance in the table: Pathogenic.

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Reference-table entries

PCSK1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:95746653
Cytoband: 5q15
HGVS: NM_000439.5(PCSK1):c.920C>T (p.Ser307Leu)
Allele change: Silent

Associated conditions / phenotypes

Obesity due to prohormone convertase I deficiency

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.