Junctional Epidermolysis Bullosa, Non-Herlitz Type(Adult junctional epidermolysis bullosa) Explore Disorder's Alias
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 Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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