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Variant (rsID / SNP)

rs147045425

PALB2

rs147045425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,619,286. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PALB2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:23619286
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)
Allele change
Missense_E1083D

Associated conditions / phenotypes

Familial cancer of breast|Hereditary cancer-predisposing syndrome|Anaplastic ependymoma

Public references

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