TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency ×
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: rs796052056
rs796052056 		0.882 0.240 8 73976397 frameshift variant -/GT delins
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2008 2014