Variant (rsID / SNP)

rs121912663

rs121912663 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,063. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TP53Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:7577063
Cytoband: 17p13.1
HGVS: NM_000546.6(TP53):c.875A>T (p.Lys292Ile)
Allele change: Missense_K160I

Associated conditions / phenotypes

Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.