Variant (rsID / SNP)

rs1057517585

rs1057517585 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,652,476. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PALB2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:23652476
Cytoband: 16p12.2
HGVS: NM_024675.4(PALB2):c.3G>A (p.Met1Ile)
Allele change: Missense_M1I

Associated conditions / phenotypes

Familial cancer of breast|Hereditary cancer-predisposing syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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