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Variant (rsID / SNP)

rs112431538

TP53

rs112431538 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,085. 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
17:7577085
Cytoband
17p13.1
HGVS
NM_000546.6(TP53):c.853G>A (p.Glu285Lys)
Allele change
Missense_E153K

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Poly (ADP-Ribose) polymerase inhibitor response|Familial cancer of breast|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.