Sturge-Weber Syndrome Explore Disorder's Alias
An Somatic mosaicism mode(s) within the Neuronal disorders category
Candidate Gene Information
An Somatic mosaicism mode(s) within the Neuronal 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 | GNAQ/2776 | G protein subunit alpha q | 9q21.2 | Chr9, NC_000009.12 (77716097..78031811, complement) |
315715 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |