Familial Hypokalemia-hypomagnesemia(Gitelman Syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Nephrological disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Nephrological 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 | SLC12A3/6559 | solute carrier family 12 member 3 | 16q13 | Chr16, NC_000016.10 (56865207..56915850) |
50644 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MMP2-AS1/107984884 | MMP2 antisense RNA 1 | 16q12.2 | Chr16, NC_000016.10 (55426797..55462297, complement) |
35501 nt | 7 | 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 |