Situs Inversus Totalis(Complete situs inversus) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Cardiovascular disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive 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 | PKD1L1/168507 | polycystin 1 like 1, transient receptor potential channel interacting | 7p12.3 | Chr7, NC_000007.14 (47774614..47960906, complement) |
186293 nt | 59 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MNS1/55329 | meiosis specific nuclear structural 1 | 15q21.3 | Chr15, NC_000015.10 (56428724..56465137, complement) |
36414 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | CFAP52/146845 | cilia and flagella associated protein 52 | 17p13.1 | Chr17, NC_000017.11 (9576642..9645554) |
68913 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | NODAL/4838 | nodal growth differentiation factor | 10q22.1 | Chr10, NC_000010.11 (70431936..70447951, complement) |
16016 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |