Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs483352697

TP53

rs483352697 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,262. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TP53Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:7578262
Cytoband
17p13.1
HGVS
NM_000546.6(TP53):c.587G>T (p.Arg196Leu)
Allele change
Missense_R64P

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1

Public references

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