Arthrogryposis, Renal Dysfunction, And Cholestasis 2(VIPAS39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome)
An Autosomal recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Multisystemic 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 | VIPAS39/63894 | VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | 14q24.3 | Chr14, NC_000014.9 (77426675..77457601, complement) |
30927 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities