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Variant (rsID / SNP)

rs45464991

PALB2

rs45464991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,641,058. 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
16:23641058
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)
Allele change
Missense_P806L

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast|Pancreatic cancer, susceptibility to, 3|Malignant tumor of breast

Public references

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