Variant (rsID / SNP)
rs146340390
rs146340390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,184. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TP53Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578184
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
- Allele change
- Missense_P90L
Associated conditions / phenotypes
Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Squamous cell carcinoma of the head and neck|Familial cancer of breast|Breast and/or ovarian cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.