Variant (rsID / SNP)
rs149711770
rs149711770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,155,132. Clinical significance in the table: Benign.
Reference-table entries
ATMBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:108155132
- Cytoband
- 11q22.3
- HGVS
- NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
- Allele change
- Missense_A1309T
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Familial cancer of breast|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.