Variant (rsID / SNP)
rs942158624
rs942158624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,266. 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
- 17:7578266
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.583A>T (p.Ile195Phe)
- Allele change
- Missense_I63F
Associated conditions / phenotypes
Acute myeloid leukemia|Neoplasm of brain|Squamous cell carcinoma of the head and neck|Breast neoplasm|Uterine carcinosarcoma|Lung adenocarcinoma|Glioblastoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Carcinoma of esophagus|Gastric adenocarcinoma|Multiple myeloma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|B-cell chronic lymphocytic leukemia|Neoplasm of the large intestine|Malignant tumor of esophagus|Li-Fraumeni syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.