Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs587782680

PALB2

rs587782680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,641,423. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PALB2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Deletion
Chromosome / position
16:23641423
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.2052del (p.Arg686fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast|Familial cancer of breast|Fanconi anemia complementation group N|Pancreatic cancer, susceptibility to, 3|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.