Variant (rsID / SNP)
rs730881297
rs730881297 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,114,732. Clinical significance in the table: Pathogenic.
Reference-table entries
ATMPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 11:108114732
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.549_550del (p.His183fs)
Associated conditions / phenotypes
Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.