|
rs121909506
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
|
18252226 |
2008 |
|
rs121909506
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121912670
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
|
16826531 |
2006 |
|
rs121912670
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
|
16826520 |
2006 |
|
rs121912670
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs137852809
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
|
18252226 |
2008 |
|
rs137852809
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs267606726
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs267606726
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs1060499782
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs121909505
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
|
18252226 |
2008 |
|
rs121909507
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs137852801
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
T |
0.700 |
CausalMutation
|
CLINVAR |
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
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
|
7619526 |
1995 |
|
rs137852801
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel.
|
6287911 |
1982 |
|
rs1553578312
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs764266722
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs767503038
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs768407867
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.
|
27748205 |
2017 |
|
rs768407867
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
T |
0.700 |
CausalMutation
|
CLINVAR |
HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.
|
24121633 |
2013 |
|
rs1490328834
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
|
0.010 |
GeneticVariation
|
BEFREE |
Exome sequencing of two siblings with phenotypic lethal multiple pterygium syndrome identified compound heterozygozity for a known splice site mutation (c.691+2T>C) and a novel missense mutation (c.956A>G; p.His319Arg) in glycogen branching enzyme 1 (GBE1).
|
23218673 |
2013 |