Variant (rsID / SNP)

rs1064792930

rs1064792930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,470. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TP53Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 17:7578470
Cytoband: 17p13.1
HGVS: NM_000546.6(TP53):c.448_460del (p.Thr150fs)

Associated conditions / phenotypes

Li-Fraumeni 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.