Hematuria, Benign Familial, 1(Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Nephrological disorders category
Candidate Gene Information
An Autosomal dominant 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 | 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 |
| Variant Information | ||||||||
| Disorder Cross-References: OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities