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Variant (rsID / SNP)

rs587776416

PALB2

rs587776416 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,641,307. Clinical significance in the table: Pathogenic.

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Reference-table entries

PALB2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Deletion
Chromosome / position
16:23641307
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)

Associated conditions / phenotypes

Familial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast neoplasm|Cancer of the pancreas|Fanconi anemia complementation group N

Public references

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