Variant (rsID / SNP)
rs587781722
rs587781722 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,181,032. Clinical significance in the table: Pathogenic.
Reference-table entries
ATMPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:108181032
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
- Allele change
- Nonsense_Q1970X
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast cancer, susceptibility to|Ataxia-telangiectasia syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.