Junctional Epidermolysis Bullosa, Non-Herlitz Type(Adult junctional epidermolysis bullosa)
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 | LAMB3/3914 | laminin subunit beta 3 | 1q32.2 | Chr1, NC_000001.11 (209614870..209652425, complement) |
37556 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | COL17A1/1308 | collagen type XVII alpha 1 chain | 10q25.1 | Chr10, NC_000010.11 (104031286..104085880, complement) |
54595 nt | 56 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | LAMA3/3909 | laminin subunit alpha 3 | 18q11.2 | Chr18, NC_000018.10 (23689453..23955066) |
265614 nt | 79 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | LAMC2/3918 | laminin subunit gamma 2 | 1q25.3 | Chr1, NC_000001.11 (183186264..183258968) |
72705 nt | 25 | 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 | ||||||||
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Clinical Symptoms & Disabilities