Achondrogenesis(Achondrogenesis syndrome)
An Autosomal dominant, Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Bone 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 | SLC26A2/1836 | solute carrier family 26 member 2 | 5q32 | Chr5, NC_000005.10 (149960758..149987400) |
26643 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TRIP11/9321 | thyroid hormone receptor interactor 11 | 14q32.12 | Chr14, NC_000014.9 (91965991..92040059, complement) |
74069 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | COL2A1/1280 | collagen type II alpha 1 chain | 12q13.11-q13.2 | Chr12, NC_000012.12 (47972967..48006212, complement) |
33246 nt | 57 | 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 |