Gene Mutations
 
Records Return:  (6) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
PMM260178560178516p13.3-p13.2ARG141HIS0001CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia2
PMM260178521206516p13.3-p13.2c.422G>A (p.R141H) CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia1
PMM260178521206516p13.3-p13.2LEU32ARG0016CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia1
PMM260178560178516p13.3-p13.2PHE119LEU0006CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia1
PMM260178521206516p13.3-p13.2PHE157SER CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia1
PMM260178521206516p13.3-p13.2PRO113THR CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia1