Gene Mutations
 
Records Return:  (4) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
TCF460227261095418q21.2ARG174TER; c.520C>T Pitt-Hopkins Syndrome3
TCF460227261095418q21.2Arg262ProfsX3 (c.784-785insCA) PITT-HOPKINS SYNDROME; PTHS1
TCF460227261095418q21.2ARG580TRP; c.1738C>T0001Pitt-Hopkins Syndrome1
TCF460227261095418q21.2c.1297-1G>T Pitt-Hopkins Syndrome1