GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Torsion Dystonia 4(DYT-TUBB4A (Autosomal Dominant Torsion Dystonia))      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neuromuscular 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 TUBB4A/10382 tubulin beta 4A class IVa 19p13.3 Chr19, NC_000019.10
(6494319..6502848, complement)
8530 nt 5 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information             Highlighted rows indicate variants are reported from India
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

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Clinical Symptoms & Disabilities