GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Nephrotic Syndrome, Type 12(Nup93 familial nephrotic syndrome)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Nephrological disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 NUP93/9688 nucleoporin 93 16q13 Chr16, NC_000016.10
(56730129..56850286)
120158 nt 25 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information             Highlighted rows indicate variants are reported from India
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

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Clinical Symptoms & Disabilities