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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 GFER P55789 p.Arg194His rs121908192 Mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD) [MIM:613076]
3o55
A
Detail
0.09 (T)
1 (D)
D ( Predicted by rules : 1 2 )