Autosomal Recessive Nonsyndromic Hearing Loss 1A(GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness)
An Autosomal recessive, Digenic dominant mode(s) within the Ear disorders category
Candidate Gene Information
An Autosomal recessive, Digenic dominant mode(s) within the Ear disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | GJB2/2706 | gap junction protein beta 2 | 13q12.11 | Chr13, NC_000013.11 (20187470..20192938, complement) |
5469 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | GJB3/2707 | gap junction protein beta 3 | 1p34.3 | Chr1, NC_000001.11 (34781214..34786364) |
5151 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities