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Variant (rsID / SNP)

rs180177143

PALB2

rs180177143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,649,207. 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
Microsatellite
Chromosome / position
16:23649207
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast|Pancreatic cancer, susceptibility to, 3|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer|Colorectal cancer|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.