Variant (rsID / SNP)
rs1057519977
rs1057519977 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,507. 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
- 17:7578507
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.423C>G (p.Cys141Trp)
- Allele change
- Missense_C9W
Associated conditions / phenotypes
Neoplasm of the large intestine|Multiple myeloma|Squamous cell lung carcinoma|Acute myeloid leukemia|Breast neoplasm|Pancreatic adenocarcinoma|Malignant neoplasm of body of uterus|Prostate adenocarcinoma|Neoplasm of brain|Lung adenocarcinoma|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Renal cell carcinoma, papillary, 1|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.