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Variant (rsID / SNP)

rs45478192

PALB2

rs45478192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,635,348. 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
16:23635348
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
Allele change
Missense_L939W

Associated conditions / phenotypes

Familial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Breast and/or ovarian cancer|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.