Gene Mutations
 
Records Return:  (7) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
RYR118090118090119q13.1ARG109TRP.0026CENTRONUCLEAR MYOPATHY3
RYR118090111700019q13.1ARG1772GLY CENTRAL CORE DISEASE OF MUSCLE1
RYR118090118090119q13.1ARG2241*.0039CENTRONUCLEAR MYOPATHY2
RYR118090111700019q13.1ARG401CYS MALIGNANT HYPERTHERMIA1
RYR118090111700019q13.1ARG975TRP CENTRAL CORE DISEASE OF MUSCLE3
RYR118090111700019q13.1c.13724A>C1CENTRAL CORE DISEASE OF MUSCLE2
RYR118090111700019q13.1p.Q1589P CENTRAL CORE DISEASE1