Variant (rsID / SNP)

rs137853010

rs137853010 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,121,016. 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: 22:29121016
Cytoband: 22q12.1
HGVS: NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
Allele change: Missense_R181C

Associated conditions / phenotypes

Prostate cancer, somatic|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.