rs104894231
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121917759
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs35613389
|
|
CG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs398122808
|
|
ACCT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs398122809
|
|
CTCT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587777239
|
|
GGTCCCGCATGGCGCTGTACTC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs727504747
|
|
AG |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
rs104894228
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
rs104894226
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
rs104894227
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
rs121917758
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
rs121917759
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series.
|
18039947 |
2008 |
rs104894229
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series.
|
18039947 |
2008 |
rs104894229
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series.
|
18039947 |
2008 |
rs104894229
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series.
|
18039947 |
2008 |
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Costello syndrome (CS) is a rare congenital disorder due to a G12S amino acid substitution in HRAS protoncogene.
|
26419841 |
2016 |
rs104894228
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
|
23093928 |
2012 |
rs121917759
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
|
23093928 |
2012 |
rs104894228
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
An unexpected new role of mutant Ras: perturbation of human embryonic development.
|
17211612 |
2007 |
rs730880460
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.
|
28139825 |
2017 |
rs730880460
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.
|
28139825 |
2017 |
rs104894229
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.
|
22317973 |
2012 |