Variant (rsID / SNP)

rs886041285

rs886041285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,576,862. Clinical significance in the table: Pathogenic.

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Reference-table entries

TP53Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 17:7576862
Cytoband: 17p13.1
HGVS: NM_000546.6(TP53):c.983dup (p.Thr329fs)

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.