Gene GJB2 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: GJB2
Disorder: Keratoderma
Allele Frequency: 0.0125628
Carrier Rate: 0.02481
Max At-Risk Couples rate: 0.000615535
The table below lists all clinically relevant variants identified in the GJB2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 20 |
20763686 |
GJB2 |
NM_004004.6:c.35delG |
NP_003995.2:p.Gly12Valfs*2 |
15 |
0.006281% |
| 51 |
20766921 |
GJB2 |
NM_004004.6:c.-23+1G>A |
p.? |
6 |
0.002513% |
| 81 |
20763612 |
GJB2 |
NM_004004.6:c.109G>A |
NP_003995.2:p.Val37Ile |
4 |
0.001675% |
| 82 |
20763650 |
GJB2 |
NM_004004.6:c.71G>A |
p.Trp24* |
4 |
0.001675% |
| 433 |
20763719 |
GJB2 |
NM_004004.6:c.2T>C |
NP_003995.2:p.Met1Thr |
1 |
0.000419% |
