Variant (rsID / SNP)
rs141568342
rs141568342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,130,520. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CHEK2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:29130520
- Cytoband
- 22q12.1
- HGVS
- NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
- Allele change
- Missense_E64K
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Breast and colorectal cancer, susceptibility to|Familial cancer of breast|CHEK2-Related Cancer Susceptibility|Breast and/or ovarian cancer|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.