MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Disease: Centronuclear myopathy ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587783752
rs587783752 		0.925 0.080 X 150657854 frameshift variant AA/-;AAA delins
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs132630304
rs132630304 		0.882 0.080 X 150598660 missense variant C/G;T snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012