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Variant (rsID / SNP)

rs144386518

TP53

rs144386518 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,579,514. 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
17:7579514
Cytoband
17p13.1
HGVS
NM_000546.6(TP53):c.173C>G (p.Pro58Arg)
Allele change
Missense_P19R

Associated conditions / phenotypes

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

Public references

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