rs587782994
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs587782995
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs587782995
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs587783001
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
|
25439098 |
2014 |
rs587783001
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1554129008
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554129045
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554129069
|
|
ACG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554129091
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
|
25439098 |
2014 |
rs1554129096
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554129100
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554129114
|
|
GT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554129118
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1561792945
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
|
25439098 |
2014 |
rs1561793115
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
|
25439098 |
2014 |
rs1561793211
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1561793219
|
|
GGCGCAGGACGAGCC |
0.700 |
GeneticVariation |
CLINVAR |
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
|
29097605 |
2018 |
rs1561793219
|
|
GGCGCAGGACGAGCC |
0.700 |
GeneticVariation |
CLINVAR |
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
|
25342064 |
2014 |
rs1561793219
|
|
GGCGCAGGACGAGCC |
0.700 |
GeneticVariation |
CLINVAR |
De novo mutations in PURA are associated with hypotonia and developmental delay.
|
27148565 |
2015 |
rs1561793268
|
|
GCGGC |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
|
25439098 |
2014 |
rs1561793268
|
|
GCGGC |
0.700 |
CausalMutation |
CLINVAR |
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
|
25342064 |
2014 |
rs1561793336
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1561793344
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587782991
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587782992
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
|
25439098 |
2014 |