GENETIC ENCYCLOPEDIA
ABOUT US    

   

disease: Congenital myopathy with fiber type disproportion

id5593
nameCongenital myopathy with fiber type disproportion
variant-disease NM_152263.3(TPM3):c.503G>A (p.Arg168His) AND Congenital myopathy with fiber type disproportion
NM_020451.2(SELENON):c.943G>A (p.Gly315Ser) AND Congenital myopathy with fiber type disproportion
NM_000540.2(RYR1):c.6104A>T (p.His2035Leu) AND Congenital myopathy with fiber type disproportion
NM_001100.3(ACTA1):c.727G>A (p.Glu243Lys) AND Congenital myopathy with fiber type disproportion
NM_152263.3(TPM3):c.11C>T (p.Ala4Val) AND Congenital myopathy with fiber type disproportion
... 89 more