|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
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 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography.
|
23751039 |
2013 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
|
22926243 |
2012 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.
|
22317973 |
2012 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
A |
0.900 |
CausalMutation
|
CLINVAR |
In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals.
|
21850009 |
2011 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals.
|
21850009 |
2011 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
|
21834037 |
2011 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Heterozygous missense mutations in HRAS are causative for Costello syndrome, with the c.34G > A (p.G12S) mutation as the most commonly found alteration.
|
20979192 |
2010 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
|
19995790 |
2010 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Enhanced human brain associative plasticity in Costello syndrome.
|
20660566 |
2010 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Costello syndrome H-Ras alleles regulate cortical development.
|
19371735 |
2009 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level.
|
19669404 |
2009 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
|
19206176 |
2009 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
|
19382114 |
2009 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
More than 80% of patients with Costello syndrome share the same underlying mutation, resulting in a G12S amino acid change.
|
18247425 |
2008 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Partially correlated thin annular sources: the scalar case.
|
18978862 |
2008 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
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
|
|
Costello syndrome (disorder)
|
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
|
|
Costello syndrome (disorder)
|
|
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
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.
|
17412879 |
2007 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.
|
17412879 |
2007 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |