Variant (rsID / SNP)
rs121912656
rs121912656 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,547. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577547
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
- Allele change
- Missense_G113D
Associated conditions / phenotypes
Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Ovarian serous cystadenocarcinoma|Breast neoplasm|Prostate adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of brain|Glioblastoma|Squamous cell carcinoma of the head and neck|Brainstem glioma|Neoplasm of the large intestine|Lung adenocarcinoma|Uterine carcinosarcoma|Transitional cell carcinoma of the bladder|Hepatocellular carcinoma|Gastric adenocarcinoma|Squamous cell lung carcinoma|Carcinoma of esophagus|Neoplasm of ovary
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.