Cystinosis(Protein defect of cystin transport)
An Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage 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 | CTNS/1497 | cystinosin, lysosomal cystine transporter | 17p13.2 | Chr17, NC_000017.11 (3636459..3663103) |
26645 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |