|
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 |
UNIPROT |
More than 80% of patients with Costello syndrome share the same underlying mutation, resulting in a G12S amino acid change.
|
18247425 |
2008 |
|
rs104894229
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
rs104894229
|
|
|
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
|
|
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 |
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 |
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
|
16881968 |
2006 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
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 |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
rs104894229
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
rs104894229
|
|
|
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
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Paternal bias in parental origin of HRAS mutations in Costello syndrome.
|
16835863 |
2006 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
|
16881968 |
2006 |
|
rs104894229
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
rs104894229
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |