Variant (rsID / SNP)

rs180177103

rs180177103 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,646,234. Clinical significance in the table: Pathogenic.

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Reference-table entries

PALB2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:23646234
Cytoband: 16p12.2
HGVS: NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
Allele change: Nonsense_E545X

Associated conditions / phenotypes

Familial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast

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.