Variant (rsID / SNP)

rs730882019

rs730882019 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,474. Clinical significance in the table: Pathogenic.

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Reference-table entries

TP53Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 17:7578474
Cytoband: 17p13.1
HGVS: NM_000546.6(TP53):c.455dup (p.Pro153fs)

Associated conditions / phenotypes

Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni 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.