Gene Mutations
 
Records Return:  (10) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
HMBS60980617600011q23.3578T>A PORPHYRIA, ACUTE INTERMITTENT1
HMBS60980617600011q23.3582_586delGCGCA PORPHYRIA, ACUTE INTERMITTENT1
HMBS60980617600011q23.3ALA11ALA PORPHYRIA, ACUTE INTERMITTENT1
HMBS60980617600011q23.3ARG116TRP0004PORPHYRIA, ACUTE INTERMITTENT1
HMBS60980617600011q23.3ARG167TRP0013PORPHYRIA, ACUTE INTERMITTENT1
HMBS60980617600011q23.3ARG195CYS PORPHYRIA, ACUTE INTERMITTENT2
HMBS60980617600011q23.3ARG26CYS PORPHYRIA, ACUITE INTERMITTENT1
HMBS60980617600011q23.3IVS1DS, G-A, +10001PORPHYRIA, ACUTE INTERMITTENT1
HMBS60980617610011q23.3THR35MET PORPHYRIA, ACUTE INTERMITTENT5
HMBS60980617600011q23.3VAL93PHE PORPHYRIA, ACUTE INTERMITTENT1