Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894226
rs104894226
0.810 GeneticVariation BEFREE Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. 28371260

2017

dbSNP: rs104894226
rs104894226
0.810 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

dbSNP: rs104894226
rs104894226
A 0.810 GeneticVariation CLINVAR Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. 24224811

2013

dbSNP: rs104894226
rs104894226
0.810 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

dbSNP: rs104894226
rs104894226
0.810 GeneticVariation UNIPROT Severe neonatal manifestations of Costello syndrome. 18039947

2008

dbSNP: rs104894226
rs104894226
0.810 GeneticVariation UNIPROT Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? 18247425

2008

dbSNP: rs104894226
rs104894226
0.810 GeneticVariation UNIPROT Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105

2007

dbSNP: rs104894226
rs104894226
0.810 GeneticVariation UNIPROT Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006

dbSNP: rs104894226
rs104894226
0.810 GeneticVariation UNIPROT HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006

dbSNP: rs104894226
rs104894226
T 0.810 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005

dbSNP: rs104894226
rs104894226
0.810 GeneticVariation UNIPROT Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005