Gene Mutations
 
Records Return:  (9) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
ATP7A300011309400Xq21.11893_1894delAG MENKES DISEASE1
ATP7A300011309400Xq21.15 BP DUP MENKES DISEASE1
ATP7A300011309400Xq21.1798_802delATCTT MENKES DISEASE1
ATP7A300011309400Xq21.1803_807delATCTC MENKES DISEASE2
ATP7A300011309400Xq21.1ARG645TER MENKES DISEASE1
ATP7A300011309400Xq21.1GLN167TER MENKES DISEASE1
ATP7A300011309400Xq21.1GLY727ARG MENKES DISEASE1
ATP7A300011309400Xq21.1IVS20AS-2, A>G MENKES DISEASE1
ATP7A300011309400Xq21.1IVS8DS+2, T>C MENKES DISEASE1