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Variant (rsID / SNP)

rs45594034

PALB2

rs45594034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,647,211. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PALB2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:23647211
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
Allele change
Missense_D219G

Associated conditions / phenotypes

Familial cancer of breast|Hereditary cancer-predisposing syndrome

Public references

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