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Variant (rsID / SNP)

rs148960463

POLK

rs148960463 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLK. Location: chromosome 5, position 74,842,932. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POLKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:74842932
Cytoband
5q13.3
HGVS
NM_016218.6(POLK):c.85G>A (p.Glu29Lys)
Allele change
Silent

Associated conditions / phenotypes

Malignant tumor of prostate|Seizure|Neurodevelopmental delay

Public references

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