Variant (rsID / SNP)
rs530941076
rs530941076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,191. 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
- 17:7578191
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.658T>C (p.Tyr220His)
- Allele change
- Missense_Y88N
Associated conditions / phenotypes
Breast neoplasm|Ovarian serous cystadenocarcinoma|Glioblastoma|Prostate adenocarcinoma|Hepatocellular carcinoma|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Squamous cell lung carcinoma|Neoplasm of the large intestine|Papillary renal cell carcinoma, sporadic|Renal cell carcinoma, papillary, 1|Small cell lung carcinoma|Pancreatic adenocarcinoma|Gastric adenocarcinoma|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Uterine carcinosarcoma|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.