Variant (rsID / SNP)

rs121908698

rs121908698 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,121,230. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CHEK2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:29121230
Cytoband: 22q12.1
HGVS: NM_007194.4(CHEK2):c.444+1G>T
Allele change: Silent

Associated conditions / phenotypes

Familial cancer of breast|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.