Variant (rsID / SNP)
rs796051858
rs796051858 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,106,566. Clinical significance in the table: Likely pathogenic.
Reference-table entries
ATMLikely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:108106566
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.496+5G>A
- Allele change
- Silent
Associated conditions / phenotypes
Ataxia - telangiectasia variant|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Hereditary breast ovarian cancer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
