Cystinuria(Cystinuria-lysinuria syndrome)
An Autosomal dominant, Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Metabolic 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 | SLC7A9/11136 | solute carrier family 7 member 9 | 19q13.11 | Chr19, NC_000019.10 (32830511..32869767, complement) |
39257 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SLC3A1/6519 | solute carrier family 3 member 1 | 2p21 | Chr2, NC_000002.12 (44275480..44322437) |
46958 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | CENPF/1063 | centromere protein F | 1q41 | Chr1, NC_000001.11 (214603195..214664571) |
61377 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |