Variant (rsID / SNP)
rs786203071
rs786203071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,499. Clinical significance in the table: Uncertain significance.
Reference-table entries
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578499
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.431A>C (p.Gln144Pro)
- Allele change
- Missense_Q12L
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Gastric adenocarcinoma|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Breast neoplasm|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Neoplasm of ovary|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.