Gene ATM Details
It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.
Gene: ATM
Disorder: Ataxia-telangiectasia
Allele Frequency: 0.0020938
Carrier Rate: 0.00417884
Max At-Risk Couples rate: 0.0000175
The table below lists all clinically relevant variants identified in the ATM gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 172 |
108106532 |
ATM |
NM_000051.4:c.468delG |
NP_000042.3:p.Trp156Cysfs*10 |
2 |
0.000838% |
| 368 |
108114679 |
ATM |
NM_000051.4:c.497-1delG |
|
1 |
0.000419% |
| 369 |
108114727 |
ATM |
NM_000051.4:c.544delG |
NP_000042.3:p.Val182Phefs*5 |
1 |
0.000419% |
| 370 |
108114832 |
ATM |
NM_000051.4:c.649delA |
NP_000042.3:p.Ile217Phefs*13 |
1 |
0.000419% |
