Bartter Syndrome(Potassium wasting)
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Nephrological disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked dominant 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 | CLCNKB/1188 | chloride voltage-gated channel Kb | 1p36.13 | Chr1, NC_000001.11 (16043782..16057326) |
13545 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | CASR/846 | calcium sensing receptor | 3q21.1 | Chr3, NC_000003.12 (122183668..122291629) |
107962 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | 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 |
| 4 | KCNJ1/3758 | potassium inwardly rectifying channel subfamily J member 1 | 11q24.3 | Chr11, NC_000011.10 (128838020..128867296, complement) |
29277 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | SLC12A1/6557 | solute carrier family 12 member 1 | 15q21.1 | Chr15, NC_000015.10 (48206302..48304078) |
97777 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |