MTMR2, myotubularin related protein 2, 8898

N. diseases: 50; N. variants: 15
Disease: Charcot-Marie-Tooth disease, Type 4B1 ×
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: rs121434403
rs121434403 		0.925 0.080 11 95849841 stop gained C/A;T snv
CUI: C1832399
Disease: Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0