Variant (rsID / SNP)
rs770965402
rs770965402 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,646,389. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PALB2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:23646389
- Cytoband
- 16p12.2
- HGVS
- NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu)
- Allele change
- Missense_P493L
Associated conditions / phenotypes
Familial cancer of breast|Hereditary cancer-predisposing syndrome|Pilocytic astrocytoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
