Testicular Agenesis(Anorchia)
An Unknown mode(s) within the Endocrine disorders category
Candidate Gene Information
An Unknown mode(s) within the Endocrine 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 | 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 |
3 | INSL3/3640 | insulin like 3 | 19p13.11 | Chr19, NC_000019.10 (17816512..17821519, complement) |
5008 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
4 | RXFP2/122042 | relaxin family peptide receptor 2 | 13q13.1 | Chr13, NC_000013.11 (31739526..31803389) |
63864 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: GTR MalaCards NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |