Hyperimmunoglobulin D With Periodic Fever(Partial mevalonate kinase deficiency) Explore Disorder's Alias
An X-linked dominant mode(s) within the Neuronal disorders category
Candidate Gene Information
An X-linked dominant 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 | MVK/4598 | mevalonate kinase | 12q24.11 | Chr12, NC_000012.12 (109573272..109598125) |
24854 nt | 15 | 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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