|
rs137853063
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In family 1, compound heterozygous mutations were identified in VRK1, c.356A>G; p.H119R, and c.1072C>T; p.R358*, in 2 siblings with adult onset distal spinal muscular atrophy (SMA).
|
27281532 |
2016 |
|
rs713993043
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Mutation analysis of the tail region in 355 patients identified a de novo mutation (c.791G>T, p.Arg264Leu) in an isolated SMA patient.
|
25512093 |
2015 |
|
rs137853063
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs713993043
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs141760116
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
[SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1].
|
26606804 |
2015 |
|
rs141760116
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
[SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1].
|
26606804 |
2015 |
|
rs1217001154
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.
|
20442745 |
2010 |
|
rs141760116
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
|
19050931 |
2009 |
|
rs141760116
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches.
|
18155522 |
2008 |
|
rs1561503058
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Spinal muscular atrophy.
|
18572081 |
2008 |
|
rs1561503058
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
|
11839954 |
2002 |
|
rs1561503058
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
|
10679938 |
2000 |
|
rs1170466474
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1554082383
|
|
CA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs746361190
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs770905160
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs794727634
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs104893922
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Expressing hSMN deleted for exon 7 (Delta7) or for exons 6 and 7 (Delta6/7), or with the SMA point mutant Y272C, resulted in loss of survival function.
|
12374765 |
2002 |
|
rs1428103360
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Expressing hSMN deleted for exon 7 (Delta7) or for exons 6 and 7 (Delta6/7), or with the SMA point mutant Y272C, resulted in loss of survival function.
|
12374765 |
2002 |
|
rs104893922
|
|
|
0.040 |
GeneticVariation |
BEFREE |
SMN mutants (SMNDelta7 and SMN-Y272C) found in patients with SMA not only lack antiapoptotic activity but also are potently proapoptotic, causing increased neuronal apoptosis and animal mortality.
|
11078511 |
2000 |
|
rs1428103360
|
|
|
0.040 |
GeneticVariation |
BEFREE |
SMN mutants (SMNDelta7 and SMN-Y272C) found in patients with SMA not only lack antiapoptotic activity but also are potently proapoptotic, causing increased neuronal apoptosis and animal mortality.
|
11078511 |
2000 |
|
rs104893922
|
|
|
0.040 |
GeneticVariation |
BEFREE |
SMN(Y272C), which carries a missense mutation and was found in an SMA patient who exceptionally retained SMN on one allele, exerts no synergism with Bcl-2.
|
9389483 |
1997 |
|
rs104893922
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Using single strand conformation analysis, we identified two missense mutations (P245L and Y272C) in exon 6 of the SMN(T) gene of two SMA patients shown to have a single copy of SMN(T) exon 7.
|
10732817 |
1997 |
|
rs1428103360
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Using single strand conformation analysis, we identified two missense mutations (P245L and Y272C) in exon 6 of the SMN(T) gene of two SMA patients shown to have a single copy of SMN(T) exon 7.
|
10732817 |
1997 |
|
rs1428103360
|
|
|
0.040 |
GeneticVariation |
BEFREE |
SMN(Y272C), which carries a missense mutation and was found in an SMA patient who exceptionally retained SMN on one allele, exerts no synergism with Bcl-2.
|
9389483 |
1997 |