rs137852800
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.
9158151
1997
rs137852801
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.
9158151
1997
rs137852801
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.
9221765
1997
rs137852802
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.
9158151
1997
rs137852802
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.
9221765
1997
rs137852803
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.
9158151
1997
rs137852803
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.
9221765
1997
rs137852808
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.
9158151
1997
rs137852808
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.
9221765
1997
rs137852798
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
8872460
1996
rs137852799
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
8872460
1996
rs137852800
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
8872460
1996
rs137852801
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
8872460
1996
rs137852802
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
8872460
1996
rs137852803
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
8872460
1996
rs137852808
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
8872460
1996
rs137852798
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
7619526
1995
rs137852799
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
7619526
1995
rs137852800
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
7619526
1995
rs137852801
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
7619526
1995
rs137852802
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
7619526
1995
rs137852803
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
7619526
1995
rs137852808
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.800
GeneticVariation
UNIPROT
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
7619526
1995
rs137852798
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
C
0.800
CausalMutation
CLINVAR
rs137852799
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
T
0.800
CausalMutation
CLINVAR