Variant (rsID / SNP)
rs57605939
rs57605939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,647,238. 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
- 16:23647238
- Cytoband
- 16p12.2
- HGVS
- NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)
- Allele change
- Missense_P210L
Associated conditions / phenotypes
Familial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Malignant tumor of breast|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.