Variant (rsID / SNP)
rs55863639
rs55863639 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,579,312. Clinical significance in the table: Pathogenic.
Reference-table entries
TP53Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7579312
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.375G>A (p.Thr125=)
- Allele change
- Synonymous_T86T
Associated conditions / phenotypes
Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Rhabdomyosarcoma|Breast and/or ovarian cancer|Malignant tumor of prostate|Glioma susceptibility 1|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.