Variant (rsID / SNP)

rs786202601

rs786202601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,090,047. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CHEK2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 22:29090047
Cytoband: 22q12.1
HGVS: NM_007194.4(CHEK2):c.1434del (p.Glu479fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast|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.