Variant (rsID / SNP)
rs587781971
rs587781971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,150,314. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ATMPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 11:108150314
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.