Variant (rsID / SNP)
rs1057520001
rs1057520001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,204. Clinical significance in the table: Uncertain significance.
Reference-table entries
TP53Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578204
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.645T>G (p.Ser215Arg)
- Allele change
- Missense_S83R
Associated conditions / phenotypes
Gastric adenocarcinoma|Ovarian serous cystadenocarcinoma|Breast neoplasm|Small cell lung carcinoma|Pancreatic adenocarcinoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Hepatocellular carcinoma|Carcinoma of esophagus|Acute myeloid leukemia|Li-Fraumeni syndrome 1|Neoplasm of ovary|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.