HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 698; N. variants: 29
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.900 GeneticVariation BEFREE Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. 21834037 2011
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		T 0.900 CausalMutation CLINVAR Costello syndrome H-Ras alleles regulate cortical development. 19371735 2009
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		T 0.900 CausalMutation CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968 2006
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.900 GeneticVariation UNIPROT HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078 2006
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		T 0.900 CausalMutation CLINVAR C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome. 22317973 2012
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		T 0.900 CausalMutation CLINVAR Partially correlated thin annular sources: the scalar case. 18978862 2008
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		T 0.900 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854 2006
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		T 0.900 CausalMutation CLINVAR Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. 21834037 2011
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		A 0.900 CausalMutation CLINVAR Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. 22926243 2012
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		T 0.900 CausalMutation CLINVAR Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105 2007
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		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
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		T 0.900 CausalMutation CLINVAR Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level. 19669404 2009