46,XY Sex Reversal 3(46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Reproductive disorders category
Candidate Gene Information
An Autosomal dominant 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 | NR5A1/2516 | nuclear receptor subfamily 5 group A member 1 | 9q33.3 | Chr9, NC_000009.12 (124481236..124507399, complement) |
26164 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | GATA4/2626 | GATA binding protein 4 | 8p23.1 | Chr8, NC_000008.11 (11676935..11760002) |
83068 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities