Variant (rsID / SNP)
rs201666889
rs201666889 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,160,416. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ATMConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:108160416
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
- Allele change
- Missense_Y1442H
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Familial cancer of breast|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.