Gene GAA 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: GAA
Disorder: Glycogen storage disease II
Allele Frequency: 0.0041876
Carrier Rate: 0.00834014
Max At-Risk Couples rate: 0.0000696
The table below lists all clinically relevant variants identified in the GAA gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 122 |
78086801 |
GAA |
NM_000152.4:c.2015G>A |
p.Arg672Gln |
3 |
0.001256% |
| 225 |
78083742 |
GAA |
NM_000152.4:c.1327-2A>G |
p.? |
2 |
0.000838% |
| 226 |
78092588 |
GAA |
NM_000152.5:c.2783A>G |
p.Tyr928Cys |
2 |
0.000838% |
| 537 |
78078341 |
GAA |
NM_000152.5:c.-32-13T>G |
|
1 |
0.000419% |
| 538 |
78079570 |
GAA |
NM_000152.5:c.569G>A |
NP_000143.2:p.Arg190His |
1 |
0.000419% |
| 539 |
78086673 |
GAA |
NM_000152.5:c.1889-2A>G |
|
1 |
0.000419% |
