Variant (rsID / SNP)
rs1057519998
rs1057519998 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,268. 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
- 17:7578268
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.581T>G (p.Leu194Arg)
- Allele change
- Missense_L62R
Associated conditions / phenotypes
Neoplasm of uterine cervix|Neoplasm of brain|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Neoplasm of the large intestine|Breast neoplasm|Lung adenocarcinoma|Transitional cell carcinoma of the bladder|Glioblastoma|Pancreatic adenocarcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Colorectal cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.