Variant (rsID / SNP)

rs121912662

rs121912662 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,573,996. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TP53Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:7573996
Cytoband: 17p13.1
HGVS: NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)
Allele change: Silent

Associated conditions / phenotypes

Li-Fraumeni syndrome 1|Li-Fraumeni 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.