Gene Mutations
 
Records Return:  (12) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
PAH26160026160012q24.123-BP DEL, NT590 (c.590_612del23) PHENYLKETONURIA1
PAH26160026160012q24.1ARG176TER PHENYLKETONURIA1
PAH26160026160012q24.1ARG252GLN PHENYLKETONURIA1
PAH26160026160012q24.1ARG408GLN0038PHENYLKETONURIA1
PAH26160026160012q24.1ARG408TRP0002PHENYLKETONURIA1
PAH26160026160012q24.1IVS10-11G>A PHENYLKETONURIA1
PAH26160026160012q24.1IVS12DS, G>A, +1 (c.1315+1 G>A)0001PHENYLKETONURIA2
PAH26160026160012q24.1IVS8+1G>A (c.912+1G>A) PHENYLKETONURIA1
PAH26160026160012q24.1PHE299CYS0039PHENYLKETONURIA1
PAH26160026160012q24.1PHE39LEU0031PHENYLKETONURIA1
PAH26160026160012q24.1PRO281LEU0012PHENYLKETONURIA1
PAH26160026160012q24.1TYR414CYS (c. 1241A>G)0017HYPERPHENYLALANINEMIA, NON-PKU1