Gene Mutations
 
Records Return:  (2) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
POMT16074232366709q34.1ARG622TER CONGENITAL MUSCULAR DYSTROPHY WITH DECREASED GLYCOSYLATED ALPHA-DYSTROGLYCAN1
POMT16074232366709q34.1SER29ARG CONGENITAL MUSCULAR DYSTROPHY WITH DECREASED GLYCOSYLATED ALPHA-DYSTROGLYCAN1