Recessive Dystrophic Epidermolysis Bullosa(Hallopeau-Siemens disease)
An Autosomal recessive mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Skin 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 | COL7A1/1294 | collagen type VII alpha 1 chain | 3p21.31 | Chr3, NC_000003.12 (48564073..48595329, complement) |
31257 nt | 120 | 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