Variant (rsID / SNP)
rs77130927
rs77130927 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,121,019. 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
- 22:29121019
- Cytoband
- 22q12.1
- HGVS
- NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
- Allele change
- Missense_R180C
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of prostate|Hereditary breast ovarian cancer syndrome|CHEK2-Related Cancer Susceptibility|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.