Variant (rsID / SNP)
rs1057520004
rs1057520004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,202. 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
- 17:7578202
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.647T>G (p.Val216Gly)
- Allele change
- Missense_V84E
Associated conditions / phenotypes
Glioblastoma|Uterine carcinosarcoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the skin|Carcinoma of esophagus|Breast neoplasm|Neoplasm of brain|Lung adenocarcinoma|Pancreatic adenocarcinoma|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.