Variant (rsID / SNP)

rs765425451

rs765425451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,092,914. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CHEK2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:29092914
Cytoband: 22q12.1
HGVS: NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe)
Allele change: Missense_S357F

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.