Classic Congenital Adrenal Hyperplasia Due To 21-hydroxylase Deficiency(CYP21 deficiency)
An Autosomal recessive mode(s) within the Endocrine disorders category
Candidate Gene Information
An Autosomal recessive 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 | CYP21A2/1589 | cytochrome P450 family 21 subfamily A member 2 | 6p21.33 | Chr6, NC_000006.12 (32038415..32041644) |
3230 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities