Gene KCNJ1 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: KCNJ1
Disorder: Bartter syndrome
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 KCNJ1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 174 |
128709867 |
KCNJ1 |
NM_000220.6:c.329C>T |
NP_000211.1:p.Pro110Leu |
2 |
0.000838% |
| 175 |
128710050 |
KCNJ1 |
NM_000220.6:c.146G>A |
p.Cys49Tyr |
2 |
0.000838% |
| 380 |
128709719 |
KCNJ1 |
NM_000220.6:c.477delG |
NP_000211.1:p.Ile161Serfs*9 |
1 |
0.000419% |
