Variant (rsID / SNP)
rs587778587
rs587778587 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,640,966. 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
- 16:23640966
- Cytoband
- 16p12.2
- HGVS
- NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
- Allele change
- Nonsense_E837X
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Breast and/or ovarian cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.