Variant (rsID / SNP)
rs1057516760
rs1057516760 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,173,716. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ATMPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 11:108173716
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.5460dup (p.Cys1821fs)
Associated conditions / phenotypes
Ataxia-telangiectasia syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.