Variant (rsID / SNP)

rs864622138

rs864622138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,619,264. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PALB2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:23619264
Cytoband: 16p12.2
HGVS: NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)
Allele change: Nonsense_Q1091X

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.