rs104894605
|
1.000 |
0.120 |
17 |
44007611 |
missense variant |
T/C
|
snv
|
4.3E-06
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
3 |
2003 |
2016 |
rs104894606
|
1.000 |
0.120 |
17 |
44007772 |
missense variant |
T/C;G
|
snv
|
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
3 |
2003 |
2016 |
rs1188223411
|
1.000 |
0.120 |
17 |
44005808 |
missense variant |
T/C
|
snv
|
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2005 |
2005 |
rs1204011876
|
1.000 |
0.120 |
17 |
44007692 |
missense variant |
G/A
|
snv
|
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2003 |
2016 |
rs760267963
|
1.000 |
0.120 |
17 |
44005709 |
missense variant |
A/G
|
snv
|
1.3E-05
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2003 |
2016 |
rs202041339
|
1.000 |
0.120 |
17 |
44007496 |
splice donor variant |
T/C
|
snv
|
4.0E-06
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs104894604
|
1.000 |
0.120 |
17 |
44006584 |
stop gained |
G/A
|
snv
|
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894607
|
1.000 |
0.120 |
17 |
44007621 |
missense variant |
G/A;C
|
snv
|
8.7E-06
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121912591
|
1.000 |
0.120 |
17 |
44006157 |
missense variant |
G/A
|
snv
|
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1251891037
|
1.000 |
0.120 |
17 |
44006113 |
missense variant |
C/T
|
snv
|
4.1E-06
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1312599995
|
1.000 |
0.120 |
17 |
44007418 |
missense variant |
A/T
|
snv
|
4.0E-06
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567941557
|
1.000 |
0.120 |
17 |
44004765 |
frameshift variant |
-/AGATCGGAAGA
|
ins
|
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs730880266
|
1.000 |
0.120 |
17 |
44006638 |
frameshift variant |
G/-
|
del
|
|
7.0E-06
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs730880267
|
1.000 |
0.120 |
17 |
44006527 |
splice acceptor variant |
A/T
|
snv
|
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs730880303
|
1.000 |
0.120 |
17 |
44007628 |
frameshift variant |
-/T
|
delins
|
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs745511282
|
1.000 |
0.120 |
17 |
44008548 |
missense variant |
G/A
|
snv
|
2.0E-05
|
2.8E-05
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs752415489
|
1.000 |
0.120 |
17 |
44008531 |
missense variant |
A/G
|
snv
|
4.0E-06;
4.4E-05
|
7.0E-06
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs755257734
|
1.000 |
0.120 |
17 |
44005780 |
stop gained |
G/A;T
|
snv
|
9.6E-06
|
|
Hyperammonemia, type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|