Epidermolysis Bullosa Simplex, Koebner Type(Epidermolysis bullosa simplex 1b, generalized intermediate) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal dominant 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 | KRT14/3861 | keratin 14 | 17q21.2 | Chr17, NC_000017.11 (41582279..41586895, complement) |
4617 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | KLHL24/54800 | kelch like family member 24 | 3q27.1 | Chr3, NC_000003.12 (183635623..183684519) |
48897 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | KRT5/3852 | keratin 5 | 12q13.13 | Chr12, NC_000012.12 (52514575..52520394, complement) |
5820 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
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Clinical Symptoms & Disabilities