Gene Mutations
 
Records Return:  (5) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
ASPA60803427190017pter-p13ALA305GLU0003CANAVAN DISEASE2
ASPA60803427190017pter-p13GLU285ALA0001CANAVAN DISEASE2
ASPA60803427190017pter-p13GLY176ASP CANAVAN DISEASE2
ASPA60803427190017pter-p13TYR231TER0005CANAVAN DISEASE2
ASPA60803427190017pter-p13TYR231TYR CANAVAN DISEASE SILENT POLYMORPHISM3