Gene ATP7B 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: ATP7B
Disorder: Wilson disease
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 ATP7B gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 194 |
52532470 |
ATP7B |
NM_000053.4:c.2332C>T |
NP_000044.2:p.Arg778Trp |
2 |
0.000838% |
| 439 |
52508892 |
ATP7B |
NM_000053.4:c.4398A>T |
NP_000044.2:p.Ter1466Cysext*1 |
1 |
0.000419% |
| 440 |
52548066 |
ATP7B |
NM_000053.4:c.1285+5G>T |
|
1 |
0.000419% |
