Variant (rsID / SNP)

rs869312782

rs869312782 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,579,485. Clinical significance in the table: Pathogenic.

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Reference-table entries

TP53Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:7579485
Cytoband: 17p13.1
HGVS: NM_000546.6(TP53):c.202G>T (p.Glu68Ter)
Allele change: Nonsense_E29X

Associated conditions / phenotypes

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

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.