Variant (rsID / SNP)

rs879253892

rs879253892 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,646,329. 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: Deletion
Chromosome / position: 16:23646329
Cytoband: 16p12.2
HGVS: NM_024675.4(PALB2):c.1538del (p.Thr513fs)

Associated conditions / phenotypes

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.