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Variant (rsID / SNP)

rs121912654

TP53

rs121912654 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,461. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TP53Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:7578461
Cytoband
17p13.1
HGVS
NM_000546.6(TP53):c.469G>T (p.Val157Phe)
Allele change
Missense_V25F

Associated conditions / phenotypes

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

Public references

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