Achondroplasia(Congenital Osteosclerosis) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal dominant 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 | FGFR3/2261 | fibroblast growth factor receptor 3 | 4p16.3 | Chr4, NC_000004.12 (1793293..1808867) |
15575 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
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Clinical Symptoms & Disabilities