rs80356525
|
0.882 |
0.200 |
19 |
45553741 |
stop gained |
G/A;C
|
snv
|
|
|
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
3 |
2004 |
2015 |
rs80356524
|
0.882 |
0.200 |
19 |
45553777 |
missense variant |
C/T
|
snv
|
|
|
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2004 |
2004 |
rs28937899
|
1.000 |
0.200 |
19 |
45553639 |
stop gained |
G/A
|
snv
|
|
|
3-Methylglutaconic aciduria type 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2008 |
2008 |
rs80356523
|
0.925 |
0.200 |
19 |
45553912 |
splice acceptor variant |
C/G
|
snv
|
|
|
3-Methylglutaconic aciduria type 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2001 |
2015 |
rs80356523
|
0.925 |
0.200 |
19 |
45553912 |
splice acceptor variant |
C/G
|
snv
|
|
|
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2001 |
2015 |
rs80356525
|
0.882 |
0.200 |
19 |
45553741 |
stop gained |
G/A;C
|
snv
|
|
|
3-Methylglutaconic aciduria type 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2004 |
2015 |
rs1555732963
|
1.000 |
0.200 |
19 |
45553836 |
frameshift variant |
-/C
|
delins
|
|
|
3-Methylglutaconic aciduria type 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1555736803
|
1.000 |
0.200 |
19 |
45584664 |
frameshift variant |
-/T
|
delins
|
|
|
3-Methylglutaconic aciduria type 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1057516497
|
1.000 |
0.200 |
19 |
45553515 |
stop lost |
T/C
|
snv
|
|
|
3-Methylglutaconic aciduria type 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1382779104
|
1.000 |
0.200 |
19 |
45553840 |
missense variant |
T/C
|
snv
|
8.1E-06
|
|
3-Methylglutaconic aciduria type 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555736793
|
1.000 |
0.200 |
19 |
45584622 |
splice donor variant |
C/T
|
snv
|
|
|
3-Methylglutaconic aciduria type 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555736814
|
1.000 |
0.200 |
19 |
45584704 |
stop gained |
T/A
|
snv
|
|
|
3-Methylglutaconic aciduria type 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80356524
|
0.882 |
0.200 |
19 |
45553777 |
missense variant |
C/T
|
snv
|
|
|
3-Methylglutaconic aciduria type 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80356526
|
1.000 |
0.200 |
19 |
45553715 |
inframe deletion |
CCTCCTTGTGGCGCTGCT/-
|
delins
|
|
|
3-Methylglutaconic aciduria type 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs886037828
|
1.000 |
0.120 |
19 |
45553819 |
missense variant |
G/C
|
snv
|
|
|
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs762180740
|
1.000 |
0.200 |
19 |
45529184 |
stop gained |
G/A
|
snv
|
9.6E-05
|
|
3-Methylglutaconic aciduria type 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs771753477
|
|
|
19 |
45529234 |
missense variant |
A/C;G
|
snv
|
4.1E-06;
4.1E-06
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs80356524
|
0.882 |
0.200 |
19 |
45553777 |
missense variant |
C/T
|
snv
|
|
|
Optic Atrophy
|
Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs80356525
|
0.882 |
0.200 |
19 |
45553741 |
stop gained |
G/A;C
|
snv
|
|
|
Optic Atrophy 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |