Variant (rsID / SNP)
rs28904921
rs28904921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,199,929. Clinical significance in the table: Pathogenic.
Reference-table entries
ATMPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:108199929
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
- Allele change
- Missense_V2424G
Associated conditions / phenotypes
T-cell prolymphocytic leukemia|Breast cancer, susceptibility to|Ataxia - telangiectasia variant|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Breast neoplasm|Familial cancer of breast|Ataxia-telangiectasia syndrome|Familial cancer of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.