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Variant (rsID / SNP)

rs200620434

PALB2

rs200620434 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,646,866. 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
16:23646866
Cytoband
16p12.2
HGVS
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
Allele change
Missense_Y334C

Associated conditions / phenotypes

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