Gene Mutations
 
Records Return:  (2) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
LDLR60694514389019p13.2-p13.1CYS646TYR0015HYPERCHOLESTEROLEMIA, FAMILIAL2
LDLR60694514389019p13.2-p13.1GLY197DEL0005HYPERCHOLESTEROLEMIA, FAMILIAL1