Variant (rsID / SNP)
rs121434220
rs121434220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,200,960. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ATMPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:108200960
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
- Allele change
- Nonsense_R2443X
Associated conditions / phenotypes
Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and/or ovarian cancer|Carcinoma of pancreas
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.