rs122454131
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.810 |
GeneticVariation |
UNIPROT |
Cardiomyopathy in Coffin-Lowry syndrome.
|
15214012 |
2004 |
rs122454131
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.810 |
GeneticVariation |
UNIPROT |
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.
|
14986828 |
2003 |
rs122454131
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.810 |
GeneticVariation |
BEFREE |
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.
|
14986828 |
2003 |
rs122454131
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).
|
10094187 |
1999 |
rs122454131
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.810 |
GeneticVariation |
UNIPROT |
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.
|
10528858 |
1999 |
rs122454131
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.
|
9837815 |
1998 |
rs122454131
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.
|
8955270 |
1996 |
rs122454131
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
G |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs122454129
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Mental Retardation, X-Linked 19
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.
|
17100996 |
2006 |
rs387906703
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Mental Retardation, X-Linked 19
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.
|
17100996 |
2006 |
rs122454124
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cardiomyopathy in Coffin-Lowry syndrome.
|
15214012 |
2004 |
rs122454125
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cardiomyopathy in Coffin-Lowry syndrome.
|
15214012 |
2004 |
rs122454126
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cardiomyopathy in Coffin-Lowry syndrome.
|
15214012 |
2004 |
rs122454127
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cardiomyopathy in Coffin-Lowry syndrome.
|
15214012 |
2004 |
rs122454130
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cardiomyopathy in Coffin-Lowry syndrome.
|
15214012 |
2004 |
rs28935171
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cardiomyopathy in Coffin-Lowry syndrome.
|
15214012 |
2004 |
rs122454124
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.
|
14986828 |
2003 |
rs122454125
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.
|
14986828 |
2003 |
rs122454126
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.
|
14986828 |
2003 |
rs122454127
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.
|
14986828 |
2003 |
rs122454130
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.
|
14986828 |
2003 |
rs28935171
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.
|
14986828 |
2003 |
rs122454124
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.
|
10528858 |
1999 |
rs122454124
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).
|
10094187 |
1999 |
rs122454125
|
Entrez Id: |
6197 |
Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Coffin-Lowry syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.
|
10528858 |
1999 |