Variant (rsID / SNP)
rs1057519997
rs1057519997 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,579,355. 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
- 17:7579355
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.332T>C (p.Leu111Pro)
- Allele change
- Missense_L72P
Associated conditions / phenotypes
Glioblastoma|Carcinoma of esophagus|B-cell chronic lymphocytic leukemia|Breast neoplasm|Hepatocellular carcinoma|Malignant melanoma of skin|Gastric adenocarcinoma|Squamous cell lung carcinoma|Li-Fraumeni 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.