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Variant (rsID / SNP)

rs121912652

TP53

rs121912652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,509. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TP53Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:7577509
Cytoband
17p13.1
HGVS
NM_000546.6(TP53):c.772G>A (p.Glu258Lys)
Allele change
Missense_E126K

Associated conditions / phenotypes

Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.