Variant (rsID / SNP)
rs34231402
rs34231402 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,128,246. 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
- 11:108128246
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
- Allele change
- Missense_F763L
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Familial ovarian cancer|Breast and/or ovarian cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.