Variant (rsID / SNP)
rs121912664
rs121912664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,574,017. 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
- 17:7574017
- Cytoband
- 17p13.1
- HGVS
- NM_000546.6(TP53):c.1010G>A (p.Arg337His)
- Allele change
- Silent
Associated conditions / phenotypes
Adrenocortical carcinoma, pediatric|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Breast neoplasm|Li-Fraumeni syndrome 1|Squamous cell carcinoma of the head and neck|Adrenocortical carcinoma, hereditary|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.