|
rs104894229
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
|
21834037 |
2011 |
|
rs104894229
|
|
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
|
|
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
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
|
19382114 |
2009 |
|
rs104894229
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
rs104894229
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
rs104894229
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Costello syndrome H-Ras alleles regulate cortical development.
|
19371735 |
2009 |
|
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
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Paternal bias in parental origin of HRAS mutations in Costello syndrome.
|
16835863 |
2006 |
|
rs104894229
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
rs104894229
|
|
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
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
rs104894229
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
rs104894229
|
|
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
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
|
rs104894229
|
|
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
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
|
16372351 |
2006 |
|
rs104894229
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.
|
22317973 |
2012 |
|
rs104894229
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
|
16881968 |
2006 |
|
rs104894229
|
|
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 |
|
rs104894230
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.
|
20658932 |
2011 |
|
rs104894230
|
|
G |
0.840 |
CausalMutation |
CLINVAR |
We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations.
|
17979197 |
2008 |
|
rs104894230
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Carcinogen-induced mutations in the mouse c-Ha-ras gene provide evidence of multiple pathways for tumor progression.
|
2105486 |
1990 |
|
rs104894230
|
|
G |
0.840 |
CausalMutation |
CLINVAR |
We identified an unusual, new germline p.Gly12Val mutation, c.35_36GC>TG, in a 12-year-old boy with attenuated CS.
|
27195699 |
2016 |
|
rs104894230
|
|
G |
0.840 |
CausalMutation |
CLINVAR |
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
|
27589201 |
2016 |