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: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities