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Variant (rsID / SNP)

rs1057519992

TP53

rs1057519992 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,208. 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
17:7578208
Cytoband
17p13.1
HGVS
NM_000546.6(TP53):c.641A>G (p.His214Arg)
Allele change
Missense_H82R

Associated conditions / phenotypes

Renal cell carcinoma, papillary, 1|Squamous cell lung carcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Glioblastoma|B-cell chronic lymphocytic leukemia|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome

Public references

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