PRRT2, proline rich transmembrane protein 2, 112476

N. diseases: 353; N. variants: 29
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) ×
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: rs387907125
rs387907125 		1.000 0.120 16 29814403 missense variant G/A snv
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2012 2012
dbSNP: rs587778771
rs587778771 		0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 2011 2015
dbSNP: rs1567379016
rs1567379016 		0.882 0.120 16 29813358 frameshift variant G/- del
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1567380076
rs1567380076 		1.000 0.120 16 29813851 frameshift variant G/- delins
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs387907126
rs387907126 		0.851 0.120 16 29813772 stop gained C/T snv 4.2E-06
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs387907127
rs387907127 		0.925 0.120 16 29813541 stop gained C/T snv
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs397514578
rs397514578 		1.000 0.120 16 29813616 stop gained C/T snv
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs730882067
rs730882067 		0.882 0.120 16 29813677 splice acceptor variant C/-;CC delins
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs730882068
rs730882068 		1.000 0.120 16 29813569 frameshift variant -/T delins
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0