Gene ATP13A2 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: ATP13A2
Disorder: Kufor-Rakeb syndrome
Allele Frequency: 0.00041876
Carrier Rate: 0.00083717
Max At-Risk Couples rate: 0.000000701
The table below lists all clinically relevant variants identified in the ATP13A2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 317 |
17322540 |
ATP13A2 |
NM_022089.4:c.1472_1473delAG |
NP_071372.1:p.Gln491Argfs*29 |
1 |
0.000419% |
