Variant (rsID / SNP)
rs121908700
rs121908700 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,121,360. 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
- 22:29121360
- Cytoband
- 22q12.1
- HGVS
- NM_007194.4(CHEK2):c.320-5T>A
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Familial cancer of breast|CHEK2-Related Cancer Susceptibility|Li-Fraumeni syndrome 2|Familial cancer of breast|Breast and/or ovarian cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.