Gene Mutations
 
Records Return:  (2) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
IKBKAP6037222239009q31c.2204+6T>C (IVS20+6T-C)0001FAMILIAL DYSAUTONOMIA1
IKBKAP6037222239009q31c.2204+6T>C (IVS20+6T>C)0001FAMILIAL DYSAUTONOMIA41