Variant (rsID / SNP)
rs139770721
rs139770721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,186,638. 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
- 11:108186638
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
- Allele change
- Missense_R2032K
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Familial cancer of breast|Ataxia-telangiectasia syndrome|Breast carcinoma|Carcinoma of pancreas|Adenocarcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.