rs386833631
|
1.000 |
0.120 |
1 |
40092507 |
missense variant |
C/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
13 |
1995 |
2012 |
rs137852698
|
0.925 |
0.120 |
1 |
40078630 |
missense variant |
A/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs137852701
|
1.000 |
0.120 |
1 |
40092085 |
missense variant |
C/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs137852702
|
1.000 |
0.120 |
1 |
40092498 |
missense variant |
C/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833626
|
1.000 |
0.120 |
1 |
40097125 |
stop gained |
C/A;T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833627
|
1.000 |
0.120 |
1 |
40097122 |
missense variant |
A/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833647
|
1.000 |
0.120 |
1 |
40089491 |
missense variant |
C/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833657
|
1.000 |
0.120 |
1 |
40080464 |
missense variant |
T/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833661
|
1.000 |
0.120 |
1 |
40078621 |
missense variant |
A/G
|
snv
|
|
1.4E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833663
|
1.000 |
0.120 |
1 |
40078603 |
missense variant |
A/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833666
|
1.000 |
0.120 |
1 |
40076891 |
missense variant |
C/A;T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833669
|
1.000 |
0.120 |
1 |
40074096 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833671
|
1.000 |
0.120 |
1 |
40074068 |
missense variant |
A/C;G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833637
|
1.000 |
0.120 |
1 |
40092150 |
inframe deletion |
AAG/-
|
delins
|
|
1.4E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2000 |
2007 |
rs386833645
|
0.925 |
0.120 |
1 |
40097236 |
start lost |
C/T
|
snv
|
|
1.4E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1998 |
2007 |
rs386833645
|
0.925 |
0.120 |
1 |
40097236 |
start lost |
C/T
|
snv
|
|
1.4E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1989 |
2007 |
rs1085307087
|
1.000 |
0.120 |
1 |
40097238 |
start lost |
T/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1998 |
1998 |
rs1349528345
|
1.000 |
0.120 |
1 |
40076863 |
frameshift variant |
-/T
|
delins
|
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2000 |
2013 |
rs1057516575
|
1.000 |
0.120 |
1 |
40074160 |
frameshift variant |
-/A
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs137852698
|
0.925 |
0.120 |
1 |
40078630 |
missense variant |
A/T
|
snv
|
|
|
Infantile neuronal ceroid lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs1553166337
|
1.000 |
0.120 |
1 |
40076840 |
splice donor variant |
A/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs34805060
|
|
|
1 |
40098413 |
upstream gene variant |
G/A
|
snv
|
|
0.20
|
Blood Protein Measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs386833625
|
1.000 |
0.120 |
1 |
40097125 |
frameshift variant |
C/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs386833635
|
1.000 |
0.120 |
1 |
40092457 |
frameshift variant |
C/-
|
delins
|
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs386833644
|
1.000 |
0.120 |
1 |
40091364 |
frameshift variant |
A/-
|
del
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |