Variant (rsID / SNP)

rs778989252

rs778989252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,091,175. 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: 22:29091175
Cytoband: 22q12.1
HGVS: NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
Allele change: Nonsense_Q439X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast

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.