rs122453113
|
1.000 |
0.120 |
X |
153694577 |
stop gained |
C/T
|
snv
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557043770
|
1.000 |
0.120 |
X |
153688627 |
frameshift variant |
AGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG/CCGTGT
|
delins
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557045296
|
1.000 |
|
X |
153693971 |
missense variant |
C/T
|
snv
|
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557045296
|
1.000 |
|
X |
153693971 |
missense variant |
C/T
|
snv
|
|
|
Low set ears
|
|
0.700 |
|
0 |
|
|
rs1557045296
|
1.000 |
|
X |
153693971 |
missense variant |
C/T
|
snv
|
|
|
Dysmorphic facies
|
|
0.700 |
|
0 |
|
|
rs1557045296
|
1.000 |
|
X |
153693971 |
missense variant |
C/T
|
snv
|
|
|
Poor school performance
|
|
0.700 |
|
0 |
|
|
rs1557045581
|
1.000 |
0.120 |
X |
153694617 |
frameshift variant |
C/-
|
delins
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569539244
|
1.000 |
0.120 |
X |
153690373 |
splice acceptor variant |
A/G
|
snv
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569539359
|
1.000 |
0.120 |
X |
153693299 |
stop gained |
-/A
|
delins
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569539381
|
1.000 |
0.120 |
X |
153693548 |
frameshift variant |
-/A
|
delins
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569539443
|
1.000 |
0.120 |
X |
153694406 |
stop gained |
G/A
|
snv
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569539466
|
1.000 |
0.120 |
X |
153694781 |
stop gained |
C/G
|
snv
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397515558
|
1.000 |
0.120 |
X |
153694753 |
missense variant |
C/T
|
snv
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs782433037
|
1.000 |
0.120 |
X |
153693349 |
inframe deletion |
AAC/-
|
delins
|
|
9.4E-06
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80338739
|
0.925 |
0.120 |
X |
153690428 |
inframe deletion |
CTT/-
|
delins
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060502808
|
1.000 |
0.120 |
X |
153693322 |
splice acceptor variant |
CA/-
|
delins
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs122453114
|
1.000 |
0.120 |
X |
153693586 |
missense variant |
G/C
|
snv
|
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs145438966
|
1.000 |
0.080 |
X |
153694800 |
missense variant |
A/G
|
snv
|
1.6E-03
|
3.7E-04
|
Mental Retardation, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.010 |
< 0.001 |
1 |
2004 |
2004 |
rs781899045
|
1.000 |
0.080 |
X |
153695191 |
missense variant |
G/A
|
snv
|
1.4E-05
|
3.8E-05
|
Mental Retardation, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.010 |
< 0.001 |
1 |
2004 |
2004 |
rs868950793
|
|
|
X |
153688666 |
missense variant |
C/A;G;T
|
snv
|
1.6E-05;
3.3E-05
|
3.9E-05
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs1557045267
|
1.000 |
0.120 |
X |
153693934 |
missense variant |
C/T
|
snv
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2006 |
2011 |
rs80338740
|
1.000 |
0.120 |
X |
153693979 |
inframe deletion |
TTC/-
|
delins
|
|
9.5E-06
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2002 |
2013 |
rs122453114
|
1.000 |
0.120 |
X |
153693586 |
missense variant |
G/C
|
snv
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2002 |
2015 |
rs122453115
|
1.000 |
0.120 |
X |
153688833 |
missense variant |
G/A
|
snv
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2002 |
2015 |
rs122453116
|
1.000 |
0.120 |
X |
153693361 |
missense variant |
C/G
|
snv
|
|
|
Creatine deficiency, X-linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2002 |
2015 |