Gene Mutations
 
Records Return:  (3) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
HADHB1434506090152p23ARG247HIS0003TRIFUNCTIONAL PROTEIN DEFICIENCY, TYPE 21
HADHB1434506090152p23ARG28HIS TRIFUNCTIONAL PROTEIN DEFICIENCY, TYPE 21
HADHB1434506090152p23ARG61HIS0002TRIFUNCTIONAL PROTEIN DEFICIENCY, TYPE 21