×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.120
GeneticVariation
disease
BEFREE
An infant with failure-to-thrive and hypertrophic cardiomyopathy had a novel de novo HRAS mutation (c.179G>T; p.Gly60Val ).
28139825
2017
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.120
GeneticVariation
disease
BEFREE
The patient with hypertrophic cardiomyopathy and normal cognitive development was diagnosed with an HRAS mutation c.173C>T (p.T58I ), a milder variant of Costello syndrome affecting a highly conserved amino acid, threonine 58.
26888048
2016
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.120
CausalMutation
disease
CLINVAR
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
19206176
2009
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.120
CausalMutation
disease
CLINVAR
Severe neonatal manifestations of Costello syndrome.
18039947
2008
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.120
CausalMutation
disease
CLINVAR
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
17054105
2007
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.120
CausalMutation
disease
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
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.120
CausalMutation
disease
CLINVAR
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
16329078
2006
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.120
CausalMutation
disease
CLINVAR
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
16443854
2006
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.120
CausalMutation
disease
CLINVAR
Somatic mosaicism for an HRAS mutation causes Costello syndrome.
16969868
2006
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.120
CausalMutation
disease
CLINVAR
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
16881968
2006
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.120
CausalMutation
disease
CLINVAR
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
16170316
2005
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
0.120
Biomarker
disease
HPO