Variant (rsID / SNP)

rs730881999

rs730881999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,550. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TP53Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:7578550
Cytoband: 17p13.1
HGVS: NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
Allele change: Silent

Associated conditions / phenotypes

Li-Fraumeni syndrome|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.