Variant (rsID / SNP)
rs1042522
rs1042522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,579,472. Clinical significance in the table: Benign.
Reference-table entries
TP53Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7579472
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
- Allele change
- Missense_P33R
Associated conditions / phenotypes
CODON 72 POLYMORPHISM|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Lip and oral cavity carcinoma|Hereditary breast ovarian cancer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.