Gene Mutations
 
Records Return:  (15) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
TAZ300394302060Xq28171delA BARTH SYNDROME1
TAZ300394302060Xq28ARG123TER BARTH SYNDROME1
TAZ300394302060Xq28ARG94CYS BARTH SYNDROME1
TAZ300394302060Xq28COMPLETE DELETION BARTH SYNDROME1
TAZ300394302060Xq28GLN233TER BARTH SYNDROME1
TAZ300394302060Xq28HIS69GLN BARTH SYNDROME1
TAZ300394302060Xq28IVS1+5G>A BARTH SYNDROME1
TAZ300394302060Xq28IVS1+5G>C0007BARTH SYNDROME1
TAZ300394302060Xq28IVS1-2A>G0010BARTH SYNDROME1
TAZ300394302060Xq28LEU166TER BARTH SYNDROME1
TAZ300394302060Xq28LEU212PRO BARTH SYNDROME1
TAZ300394302060Xq28LEU42TER BARTH SYNDROME1
TAZ300394302060Xq28MET185VAL BARTH SYNDROME1
TAZ300394302060Xq28PHE128SER BARTH SYNDROME1
TAZ300394302060Xq28TRP79TER BARTH SYNDROME1