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Variant (rsID / SNP)

rs200917541

CHEK2

rs200917541 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,121,258. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHEK2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:29121258
Cytoband
22q12.1
HGVS
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=)
Allele change
Synonymous_Y139Y

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|CHEK2-Related Cancer Susceptibility|Familial cancer of breast

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.