Gene ATP2A1 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: ATP2A1
Disorder: Autism spectrum disorder
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 ATP2A1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 209 |
28909424 |
ATP2A1 |
NM_173201.5:c.1523dupT |
NP_775293.1:p.Asn510Glnfs*10 |
2 |
0.000838% |
| 210 |
28909627 |
ATP2A1 |
NM_173201.5:c.1619delinsTT |
NP_775293.1:p.Pro540Leufs*41 |
2 |
0.000838% |
| 492 |
28911923 |
ATP2A1 |
NM_173201.5:c.1785_1786insCTAC |
NP_775293.1:p.Val596Leufs*22 |
1 |
0.000419% |
