Alport Syndrome(Alport hearing loss-nephropathy)
An Autosomal dominant, Autosomal recessive, X-linked recessive mode(s) within the Nephrological disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked recessive mode(s) within the Nephrological 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 | COL4A5/1287 | collagen type IV alpha 5 chain | Xq22.3 | ChrX, NC_000023.11 (108439838..108697545) |
257708 nt | 57 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | COL4A4/1286 | collagen type IV alpha 4 chain | 2q36.3 | Chr2, NC_000002.12 (226967360..227164488, complement) |
197129 nt | 57 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | COL4A3/1285 | collagen type IV alpha 3 chain | 2q36.3 | Chr2, NC_000002.12 (227164624..227314792) |
150169 nt | 54 | 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
Prevalence
| Under development |