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Variant (rsID / SNP)

rs149569984

POLD1

rs149569984 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLD1. Location: chromosome 19, position 50,912,061. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POLD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:50912061
Cytoband
19q13.33
HGVS
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr)
Allele change
Missense_A599T

Associated conditions / phenotypes

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

Public references

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