Variant (rsID / SNP)
rs886039484
rs886039484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,206. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TP53Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578206
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
- Allele change
- Missense_S83G
Associated conditions / phenotypes
Ovarian serous cystadenocarcinoma|Hepatocellular carcinoma|Breast neoplasm|Small cell lung carcinoma|Lung adenocarcinoma|Gastric adenocarcinoma|Carcinoma of esophagus|Pancreatic adenocarcinoma|Acute myeloid leukemia|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.