Variant (rsID / SNP)
rs28934578
rs28934578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,406. Clinical significance in the table: Pathogenic.
Reference-table entries
TP53Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578406
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.524G>A (p.Arg175His)
- Allele change
- Missense_R43H
Associated conditions / phenotypes
Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Malignant tumor of esophagus|Neoplasm|Breast neoplasm|11 conditions|Neoplasm of ovary|Lip and oral cavity carcinoma|Squamous cell carcinoma of the head and neck|Colorectal cancer|Familial cancer of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.