Ehlers-Danlos Syndrome, Classic Type, 2(EDSCL2) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Multisystemic 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 | COL5A2/1290 | collagen type V alpha 2 chain | 2q32.2 | Chr2, NC_000002.12 (189031898..189441111, complement) |
409214 nt | 61 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | COL5A1/1289 | collagen type V alpha 1 chain | 9q34.3 | Chr9, NC_000009.12 (134641803..134844843) |
203041 nt | 68 | 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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