Proteus Syndrome(Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome) Explore Disorder's Alias
An Somatic mutation mode(s) within the Bone disorders category
Candidate Gene Information
An Somatic mutation 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 | AKT1/207 | AKT serine/threonine kinase 1 | 14q32.33 | Chr14, NC_000014.9 (104769349..104795748, complement) |
26400 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |