Variant (rsID / SNP)

rs118203999

rs118203999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PALB2. Location: chromosome 16, position 23,634,324. 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: 16:23634324
Cytoband: 16p12.2
HGVS: NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
Allele change: Nonsense_Q988X

Associated conditions / phenotypes

Fanconi anemia complementation group N|Breast cancer, susceptibility to|Hereditary cancer-predisposing syndrome|Familial cancer 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.