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Variant (rsID / SNP)

rs180177083

PALB2

rs180177083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,649,186. 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
16:23649186
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
Allele change
Nonsense_Q66X

Associated conditions / phenotypes

Familial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|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.