Variant (rsID / SNP)
rs587780071
rs587780071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,269. Clinical significance in the table: Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578269
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.580C>T (p.Leu194Phe)
- Allele change
- Missense_L62F
Associated conditions / phenotypes
Neoplasm of uterine cervix|Neoplasm of brain|Breast neoplasm|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Glioblastoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Li-Fraumeni syndrome|Li-Fraumeni syndrome 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.