Variant (rsID / SNP)

rs1057520607

rs1057520607 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,058. Clinical significance in the table: Pathogenic.

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Reference-table entries

TP53Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:7577058
Cytoband: 17p13.1
HGVS: NM_000546.6(TP53):c.880G>T (p.Glu294Ter)
Allele change: Nonsense_E162X

Associated conditions / phenotypes

Neoplasm of ovary

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.