Gene Mutations
 
Records Return:  (3) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
AGA6132282084004q34.3133-BP DEL, NT807-940DEL, FS, TER0009ASPARTYLGLUCOSAMINURIA1
AGA6132282084004q34.3ARG161GLN ASPARTYLGLUCOSAMINURIA, FINNISH TYPE3
AGA6132282084004q34.3CYS163SER0001ASPARTYLGLUCOSAMINURIA, FINNISH TYPE3