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Variant (rsID / SNP)

rs55819519

TP53

rs55819519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,577,069. Clinical significance in the table: Benign.

Reference-table entries

TP53Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
17:7577069
Cytoband
17p13.1
HGVS
NM_000546.6(TP53):c.869G>A (p.Arg290His)
Allele change
Missense_R158H

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Squamous cell carcinoma of the head and neck|Familial ovarian cancer|Breast and/or ovarian cancer

Public references

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