GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Andersen Tawil Syndrome(Long QT syndrome 7) 
An Autosomal dominant mode(s) within the Cardiovascular 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 KCNJ2/3759 potassium inwardly rectifying channel subfamily J member 2 17q24.3 Chr17, NC_000017.11
(70169532..70180044)
10513 nt 2 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      Orphanet          OMIM                    GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

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Clinical Symptoms & Disabilities