Variant (rsID / SNP)

rs587782570

rs587782570 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,634,354. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PALB2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 16:23634354
Cytoband: 16p12.2
HGVS: NM_024675.4(PALB2):c.2931dup (p.Val978fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast|BAP1-related tumor predisposition syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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