Variant (rsID / SNP)

rs534447939

rs534447939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,579,442. Clinical significance in the table: Likely benign.

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Reference-table entries

TP53Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:7579442
Cytoband: 17p13.1
HGVS: NM_000546.6(TP53):c.245C>T (p.Pro82Leu)
Allele change: Missense_P43L

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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