Variant (rsID / SNP)

rs864622453

rs864622453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,121,073. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHEK2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 22:29121073
Cytoband: 22q12.1
HGVS: NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs)

Associated conditions / phenotypes

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.