rs104894273
|
1.000 |
0.120 |
11 |
112226517 |
missense variant |
G/A
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
12 |
1994 |
2001 |
rs104894279
|
0.925 |
0.120 |
11 |
112233464 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
12 |
1994 |
2001 |
rs1555198458
|
1.000 |
0.120 |
11 |
112233215 |
missense variant |
A/G
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1994 |
2001 |
rs1555198495
|
1.000 |
0.120 |
11 |
112233457 |
missense variant |
A/G
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1994 |
2001 |
rs1167104933
|
0.925 |
0.120 |
11 |
112226516 |
stop gained |
C/G;T
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
1998 |
2013 |
rs866922524
|
1.000 |
0.120 |
11 |
112230681 |
splice donor variant |
-/GG
|
delins
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1987 |
2006 |
rs1040441824
|
0.882 |
0.200 |
11 |
112233502 |
missense variant |
A/G
|
snv
|
|
2.1E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1328320990
|
1.000 |
0.120 |
11 |
112228614 |
missense variant |
A/G
|
snv
|
|
1.4E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555198165
|
1.000 |
0.120 |
11 |
112229367 |
non coding transcript exon variant |
AAAGCACTGATAAAGTTTTTTTTTGTTGTTGTTGTTTTTTTTTTTGAGATGGAGT/-
|
delins
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555198233
|
1.000 |
0.120 |
11 |
112230206 |
splice acceptor variant |
A/G
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555198263
|
1.000 |
0.120 |
11 |
112230664 |
frameshift variant |
TC/-
|
delins
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555198451
|
1.000 |
0.120 |
11 |
112233162 |
splice acceptor variant |
G/T
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555198462
|
1.000 |
0.120 |
11 |
112233234 |
splice donor variant |
G/C
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555198483
|
1.000 |
0.120 |
11 |
112233430 |
splice acceptor variant |
A/G
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555198494
|
1.000 |
0.120 |
11 |
112233452 |
frameshift variant |
T/-
|
delins
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs794726657
|
1.000 |
0.120 |
11 |
112228271 |
intron variant |
A/T
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs927103678
|
1.000 |
0.120 |
11 |
112226527 |
splice donor variant |
G/A
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894276
|
0.882 |
0.120 |
11 |
112233178 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
7.6E-05
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
18 |
1994 |
2015 |
rs1256819927
|
1.000 |
0.120 |
11 |
112230231 |
splice donor variant |
G/T
|
snv
|
4.0E-06
|
7.0E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894280
|
0.925 |
0.120 |
11 |
112233205 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
21 |
1994 |
2015 |
rs104894278
|
0.925 |
0.120 |
11 |
112228649 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1994 |
2001 |
rs747260038
|
1.000 |
0.120 |
11 |
112228626 |
frameshift variant |
TTTG/-
|
delins
|
4.0E-06
|
7.2E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2001 |
2013 |
rs776543880
|
1.000 |
0.120 |
11 |
112233431 |
splice acceptor variant |
G/A;C
|
snv
|
4.1E-06
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1449216377
|
1.000 |
0.120 |
11 |
112228618 |
missense variant |
C/G
|
snv
|
4.1E-06
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1994 |
2001 |
rs770387277
|
1.000 |
0.120 |
11 |
112230210 |
inframe deletion |
GTG/-
|
delins
|
8.0E-06
|
2.1E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1995 |
2016 |