Karyomegalic Interstitial Nephritis(Systemic karyomegaly) 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 | FAN1/22909 | FANCD2 and FANCI associated nuclease 1 | 15q13.3 | Chr15, NC_000015.10 (30903852..30943108) |
39257 nt | 19 | 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 |