Gene Mutations
 
Records Return:  (8) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
PLP1300401312080Xq22DUP0021PELIZAEUS-MERZBACHER DISEASE1
PLP1300401312080Xq22GLY127GLY PELIZAEUS-MERZBACHER DISEASE1
PLP1300401312080Xq22PARTIAL DEL EX 3 AND 4 PELIZAEUS-MERZBACHER DISEASE1
PLP1300401312080Xq22PRO14LEU0003PELIZAEUS-MERZBACHER DISEASE1
PLP1300401312080Xq22PRO215SER0001PELIZAEUS-MERZBACHER DISEASE3
PLP1300401312080Xq22THR115LYS PELIZAEUS-MERZBACHER DISEASE1
PLP1300401312080Xq22THR42ILE0014PELIZAEUS-MERZBACHER DISEASE1
PLP1300401312080Xq22TRP162ARG0002PELIZAEUS-MERZBACHER DISEASE1