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Variant (rsID / SNP)

rs121912653

TP53

rs121912653 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,526. 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
17:7577526
Cytoband
17p13.1
HGVS
NM_000546.6(TP53):c.755T>C (p.Leu252Pro)
Allele change
Missense_L120P

Associated conditions / phenotypes

Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Familial cancer of breast

Public references

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