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Variant (rsID / SNP)

rs730882007

TP53

rs730882007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,530. 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
17:7577530
Cytoband
17p13.1
HGVS
NM_000546.6(TP53):c.751A>C (p.Ile251Leu)
Allele change
Missense_I119L

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Gastric cancer|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.