Variant (rsID / SNP)
rs267605076
rs267605076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,177. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TP53Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7578177
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.672G>A (p.Glu224=)
- Allele change
- Synonymous_E92E
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|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.
