Gene Mutations
 
Records Return:  (6) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
PEX2660866626651022q11.211-BP INS, 255T0007REFSUM DISEASE, INFANTILE FORM1
PEX2660866621410022q11.211-BP INS, 35C0003ZELLWEGER SYNDROME1
PEX2660866620237022q11.21ARG98TRP0001NEONATAL ADRENOLEUKODYSTROPHY (REFSUM DISEASE, INFANTILE FORM INCLUDED)2
PEX2660866621410022q11.21IVS2+1,G>T0008ZELLWEGER SYNDROME1
PEX2660866626651022q11.21LEU45PRO0006REFSUM DISEASE, INFANTILE FORM1
PEX2660866626651022q11.21MET1THR0005REFSUM DISEASE, INFANTILE FORM1