GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

ZTTK Syndrome(SON -Related Syndrome) 
An Autosomal dominant mode(s) within the Multisystemic 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 SON/6651 SON DNA and RNA binding protein 21q22.11 Chr21, NC_000021.9
(33543038..33577481)
34444 nt 15 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