Variant (rsID / SNP)
rs144340710
rs144340710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,577. Clinical significance in the table: Benign.
Reference-table entries
TP53Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7577577
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
- Allele change
- Missense_N103S
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Rhabdomyosarcoma|Li-Fraumeni syndrome 1|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome|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.
