Gene Mutations
 
Records Return:  (8) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
CLN260799860799811p15.54188A>G CEROID LIPOFUSCINOSIS, NEURONAL 21
CLN260799820450011p15.5ARG127GLN CEROID LIPOFUSCINOSIS, NEURONAL 21
CLN260799820450011p15.5ARG127TER CEROID LIPOFUSCINOSIS, NEURONAL 21
CLN260799820450011p15.5ARG208TER0003CEROID LIPOFUSCINOSIS, NEURONAL 23
CLN260799820450011p15.5GLY473ARG CEROID LIPOFUSCINOSIS, NEURONAL 21
CLN260799820450011p15.5ILE287ASN CEROID LIPOFUSCINOSIS, NEURONAL 21
CLN260799820450011p15.5IVS5-1G>A CEROID LIPOFUSCINOSIS, NEURONAL 23
CLN260799820450011p15.5IVS5AS, G>C, -10004CEROID LIPOFUSCINOSIS, NEURONAL 24