Loeys-Dietz Syndrome 2(TGFBR2-related thoracic aortic aneurysms and aortic dissections) 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 | TGFBR2/7048 | transforming growth factor beta receptor 2 | 3p24.1 | Chr3, NC_000003.12 (30606356..30694142) |
87787 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TMPO/7112 | thymopoietin | 12q23.1 | Chr12, NC_000012.12 (98515573..98550351) |
34779 nt | 11 | 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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