Ehlers-Danlos Syndrome, Type 4(Arterial-ecchymotic EDS) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cardiovascular disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Cardiovascular 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 | COL3A1/1281 | collagen type III alpha 1 chain | 2q32.2 | Chr2, NC_000002.12 (188974373..189012746) |
38374 nt | 51 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities