rs776641008
|
1.000 |
0.120 |
3 |
183020102 |
splice donor variant |
TCATTCTACAGATGTCATGTGATTACCTTTTCA/-
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2001 |
2012 |
rs905321122
|
1.000 |
0.120 |
3 |
183020177 |
stop gained |
C/A;G
|
snv
|
4.0E-06
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1553850609
|
1.000 |
0.120 |
3 |
183022454 |
frameshift variant |
TTCGCTTTACTAGC/-
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs7640612
|
1.000 |
0.040 |
3 |
183025479 |
intron variant |
C/A
|
snv
|
|
0.50
|
Parkinson Disease
|
Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1394547323
|
1.000 |
0.120 |
3 |
183033992 |
frameshift variant |
-/T
|
delins
|
|
1.4E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs119103216
|
1.000 |
0.120 |
3 |
183034068 |
missense variant |
G/A
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119103214
|
1.000 |
0.120 |
3 |
183037218 |
missense variant |
C/G
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs727504002
|
1.000 |
0.120 |
3 |
183037286 |
frameshift variant |
C/-
|
del
|
1.2E-05
|
2.8E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2005 |
2012 |
rs2270968
|
1.000 |
0.040 |
3 |
183037421 |
missense variant |
T/A;G
|
snv
|
0.63
|
|
Parkinson Disease
|
Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs119103218
|
1.000 |
0.120 |
3 |
183037432 |
missense variant |
A/C
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs768785753
|
1.000 |
0.120 |
3 |
183039072 |
missense variant |
C/T
|
snv
|
2.8E-05
|
3.5E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs398124352
|
1.000 |
0.120 |
3 |
183039088 |
missense variant |
C/A;G;T
|
snv
|
3.2E-05;
4.0E-06;
8.0E-06
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs119103215
|
1.000 |
0.120 |
3 |
183039093 |
missense variant |
A/G
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs376289130
|
1.000 |
0.120 |
3 |
183039101 |
missense variant |
A/C;G
|
snv
|
4.0E-05
|
1.1E-04
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs762463137
|
1.000 |
0.120 |
3 |
183041570 |
frameshift variant |
-/C
|
delins
|
4.0E-05;
8.0E-06
|
2.1E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2001 |
2005 |
rs1560224024
|
1.000 |
0.120 |
3 |
183041571 |
frameshift variant |
GTACTCC/-
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1484347924
|
1.000 |
0.120 |
3 |
183041609 |
stop gained |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs796051985
|
1.000 |
0.120 |
3 |
183041640 |
frameshift variant |
CA/-
|
delins
|
4.0E-06
|
1.4E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119103213
|
1.000 |
0.120 |
3 |
183041679 |
missense variant |
T/G
|
snv
|
1.3E-04
|
7.7E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2001 |
2015 |
rs1333357031
|
1.000 |
0.120 |
3 |
183041687 |
missense variant |
C/T
|
snv
|
|
1.4E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs794727036
|
1.000 |
0.120 |
3 |
183041695 |
missense variant |
T/C;G
|
snv
|
4.0E-06
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs887877405
|
1.000 |
0.120 |
3 |
183041699 |
missense variant |
C/T
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs755328329
|
1.000 |
0.120 |
3 |
183041719 |
missense variant |
T/G
|
snv
|
4.0E-06
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs544349961
|
1.000 |
0.120 |
3 |
183041720 |
stop gained |
G/A
|
snv
|
2.4E-05
|
4.9E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs201386261
|
1.000 |
0.120 |
3 |
183041738 |
missense variant |
C/T
|
snv
|
2.4E-05
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |