Variant (rsID / SNP)
rs985033810
rs985033810 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,550. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577550
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.731G>A (p.Gly244Asp)
- Allele change
- Missense_G112D
Associated conditions / phenotypes
Neoplasm of the large intestine|Squamous cell lung carcinoma|Glioblastoma|Small cell lung carcinoma|Carcinoma of esophagus|Lung adenocarcinoma|Uterine carcinosarcoma|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Gastric adenocarcinoma|Li-Fraumeni syndrome|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|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.