|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
|
21834037 |
2011 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene).
|
17324647 |
2007 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
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
|
BEFREE |
Costello syndrome (CS) is a rare congenital disorder due to a G12S amino acid substitution in HRAS protoncogene.
|
26419841 |
2016 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
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)
|
|
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)
|
|
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
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
|
22926243 |
2012 |
|
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)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Germline mutations in the HRAS gene, especially p.(Gly12Ser/Ala), cause Costello Syndrome (CS), a severe congenital disorder.
|
24169525 |
2014 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
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
|
BEFREE |
De novo heterozygous HRAS point mutations have been reported in more than 81 patients with Costello syndrome (CS), but genotype/phenotype correlation remains incomplete because the majority of patients share a common mutation, G12S, seen in 65/81 (80%).
|
16969868 |
2006 |
|
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)
|
|
0.900 |
GeneticVariation
|
BEFREE |
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)
|
|
0.900 |
GeneticVariation
|
BEFREE |
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 |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
|
19206176 |
2009 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
|
16881968 |
2006 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Heterozygous mutations in HRAS are responsible for Costello syndrome, with more than 80% of the patients harboring the specific p.Gly12Ser variant.
|
28371260 |
2017 |
|
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)
|
|
0.900 |
GeneticVariation
|
BEFREE |
To examine the mechanisms of energy reprogramming by HRAS activation in vivo, we generated knock-in mice expressing a heterozygous Hras G12S mutation (Hras<sup>G12S/+</sup> mice) as a mouse model of Costello syndrome.
|
29254681 |
2018 |
|
rs104894229
|
|
Costello syndrome (disorder)
|
T |
0.900 |
CausalMutation
|
CLINVAR |
De novo heterozygous HRAS point mutations have been reported in more than 81 patients with Costello syndrome (CS), but genotype/phenotype correlation remains incomplete because the majority of patients share a common mutation, G12S, seen in 65/81 (80%).
|
16969868 |
2006 |
|
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 |