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Variant (rsID / SNP)

rs180177110

PALB2

rs180177110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,641,218. Clinical significance in the table: Pathogenic.

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Reference-table entries

PALB2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:23641218
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
Allele change
Nonsense_R753X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Fanconi anemia complementation group N

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.