Gene Mutations
 
Records Return:  (4) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
RAI160764218229017p11.2253del190007SMITH-MAGENIS SYNDROME1
RAI160764218229017p11.22773del290003SMITH-MAGENIS SYNDROME1
RAI160764218229017p11.2ALA75SER SMITH-MAGENIS SYNDROME2
RAI160764218229017p11.2LYS1753TER SMITH-MAGENIS SYNDROME1