Gene ALPL 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: ALPL
Disorder: Odontohypophosphatasia
Allele Frequency: 0.00167504
Carrier Rate: 0.00334447
Max At-Risk Couples rate: 0.0000112
The table below lists all clinically relevant variants identified in the ALPL gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 158 |
21903969 |
ALPL |
NM_000478.6:c.1403C>T |
NP_000469.3:p.Ala468Val |
2 |
0.000838% |
| 330 |
21902340 |
ALPL |
NM_000478.6:c.1114_1115delCT |
NP_000469.3:p.Leu372Aspfs*32 |
1 |
0.000419% |
| 331 |
21902411 |
ALPL |
NM_000478.6:c.1183A>G |
NP_000469.3:p.Ile395Val |
1 |
0.000419% |
