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Variant (rsID / SNP)

rs148026749

PALB2

rs148026749 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,641,146. 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
16:23641146
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)
Allele change
Missense_D777N

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast

Public references

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