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Variant (rsID / SNP)

rs1057519999

TP53

rs1057519999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,565. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TP53Likely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:7577565
Cytoband
17p13.1
HGVS
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)
Allele change
Missense_N107T

Associated conditions / phenotypes

Neoplasm of the large intestine|Renal cell carcinoma, papillary, 1|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Breast neoplasm|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Uterine carcinosarcoma|Gastric adenocarcinoma|Hepatocellular carcinoma|Prostate adenocarcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|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.