Variant (rsID / SNP)

rs879254113

rs879254113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,614,850. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PALB2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:23614850
Cytoband: 16p12.2
HGVS: NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter)
Allele change: Nonsense_W1164X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast

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.