Variant (rsID / SNP)

rs764509489

rs764509489 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,641,139. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PALB2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:23641139
Cytoband: 16p12.2
HGVS: NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
Allele change: Nonsense_S779X

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.