Gene ALDH3A2 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: ALDH3A2
Disorder: Sjogren-Larsson syndrome
Allele Frequency: 0.00628141
Carrier Rate: 0.0124839
Max At-Risk Couples rate: 0.000155848
The table below lists all clinically relevant variants identified in the ALDH3A2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 69 |
19552394 |
ALDH3A2 |
NM_000382.3:c.109_110insA |
NP_000373.1:p.Arg37Glnfs*17 |
5 |
0.002094% |
| 70 |
19552415 |
ALDH3A2 |
NM_000382.3:c.132dupC |
NP_000373.1:p.Ile45Hisfs*9 |
5 |
0.002094% |
| 87 |
19559758 |
ALDH3A2 |
NM_000382.3:c.551C>T |
NP_000373.1:p.Thr184Met |
4 |
0.001675% |
| 515 |
19552309 |
ALDH3A2 |
NM_000382.3:c.25C>T |
NP_000373.1:p.Arg9Ter |
1 |
0.000419% |
