Variant (rsID / SNP)
rs1057519989
rs1057519989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,551. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577551
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.730G>T (p.Gly244Cys)
- Allele change
- Missense_G112R
Associated conditions / phenotypes
Glioblastoma|Neoplasm of the large intestine|Neoplasm of brain|Hepatocellular carcinoma|Small cell lung carcinoma|Malignant neoplasm of body of uterus|Squamous cell lung carcinoma|Ovarian serous cystadenocarcinoma|Uterine carcinosarcoma|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Lung adenocarcinoma|Gastric adenocarcinoma|Li-Fraumeni syndrome|Familial cancer of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.