rs587778771
|
0.827 |
0.120 |
16 |
29813695 |
frameshift variant |
C/-;CC;CCC
|
delins
|
|
|
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 |
rs387907125
|
1.000 |
0.120 |
16 |
29814403 |
missense variant |
G/A
|
snv
|
|
|
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 |
rs1567379016
|
0.882 |
0.120 |
16 |
29813358 |
frameshift variant |
G/-
|
del
|
|
|
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 |
|
|
rs1567380076
|
1.000 |
0.120 |
16 |
29813851 |
frameshift variant |
G/-
|
delins
|
|
|
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 |
|
|
rs387907126
|
0.851 |
0.120 |
16 |
29813772 |
stop gained |
C/T
|
snv
|
4.2E-06
|
|
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 |
|
|
rs387907127
|
0.925 |
0.120 |
16 |
29813541 |
stop gained |
C/T
|
snv
|
|
|
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 |
|
|
rs397514578
|
1.000 |
0.120 |
16 |
29813616 |
stop gained |
C/T
|
snv
|
|
|
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 |
|
|
rs730882067
|
0.882 |
0.120 |
16 |
29813677 |
splice acceptor variant |
C/-;CC
|
delins
|
|
|
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 |
|
|
rs730882068
|
1.000 |
0.120 |
16 |
29813569 |
frameshift variant |
-/T
|
delins
|
|
|
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 |
|
|