Heterotaxy, Visceral, 6, Autosomal(HTX6)
An Autosomal recessive mode(s) within the Cardiovascular disorders category
Candidate Gene Information
An 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 | CFAP53/220136 | cilia and flagella associated protein 53 | 18q21.1 | Chr18, NC_000018.10 (50227193..50266495, complement) |
39303 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities