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Variant (rsID / SNP)

rs199993010

POLD1

rs199993010 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLD1. Location: chromosome 19, position 50,905,089. 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
19:50905089
Cytoband
19q13.33
HGVS
NM_002691.4(POLD1):c.371T>C (p.Val124Ala)
Allele change
Missense_V124A

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 10|Carcinoma of colon

Public references

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