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Variant (rsID / SNP)

rs749494645

PALB2

rs749494645 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,646,488. 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
16:23646488
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
Allele change
Missense_Q460R

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group N|Hereditary breast ovarian cancer 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.