46,XY Sex Reversal 1(Swyer syndrome) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, X-linked dominant, Y-linked mode(s) within the Reproductive disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked dominant, Y-linked mode(s) within the Reproductive 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 | SRY/6736 | sex determining region Y | Yp11.2 | ChrY, NC_000024.10 (2786855..2787682, complement) |
828 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SOX9/6662 | SRY-box transcription factor 9 | 17q24.3 | Chr17, NC_000017.11 (72121020..72126416) |
5397 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | DHX37/57647 | DEAH-box helicase 37 | 12q24.31 | Chr12, NC_000012.12 (124946826..124989131, complement) |
42306 nt | 28 | 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 | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |