Variant (rsID / SNP)

rs587777627

rs587777627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLD1. Location: chromosome 19, position 50,909,701. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

POLD1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:50909701
Cytoband: 19q13.33
HGVS: NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)
Allele change: Missense_L474P

Associated conditions / phenotypes

Colorectal cancer, susceptibility to, 10|Hereditary cancer-predisposing syndrome

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.