Variant (rsID / SNP)
rs774281788
rs774281788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,201,096. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ATMConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:108201096
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)
- Allele change
- Missense_C2488Y
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Hereditary cancer|Ataxia-telangiectasia syndrome|Ataxia-telangiectasia syndrome|Malignant tumor of breast|Familial cancer of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.