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Variant (rsID / SNP)

rs587781386

TP53

rs587781386 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,207. 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
17:7578207
Cytoband
17p13.1
HGVS
NM_000546.6(TP53):c.642T>G (p.His214Gln)
Allele change
Missense_H82Q

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Squamous cell carcinoma of the head and neck

Public references

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