Gene Mutations
 
Records Return:  (3) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
DHCR760285827040011q12-q13GLY138VAL SMITH-LEMLI-OPITZ SYNDROME2
DHCR760285827040011q12-q13HIS405TYR SMITH-LEMLI-OPITZ SYNDROME2
DHCR760285827040011q12-q13IVS8-1G>C0001SMITH-LEMLI-OPITZ SYNDROME1