Variant (rsID / SNP)
rs1057520447
rs1057520447 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,170,433. 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
- 11:108170433
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.5006-8A>G
- Allele change
- Silent
Associated conditions / phenotypes
Ataxia-telangiectasia syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.