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 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder)
0.900 GeneticVariation BEFREE To examine the mechanisms of energy reprogramming by HRAS activation in vivo, we generated knock-in mice expressing a heterozygous Hras G12S mutation (Hras<sup>G12S/+</sup> mice) as a mouse model of Costello syndrome. 29254681 2018
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder)
0.900 GeneticVariation BEFREE Heterozygous mutations in HRAS are responsible for Costello syndrome, with more than 80% of the patients harboring the specific p.Gly12Ser variant. 28371260 2017
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)
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)
0.900 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: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography. 23751039 2013
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 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)
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 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)
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 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 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 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)
0.900 GeneticVariation BEFREE Heterozygous missense mutations in HRAS are causative for Costello syndrome, with the c.34G > A (p.G12S) mutation as the most commonly found alteration. 20979192 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 Heterozygous missense mutations in HRAS are causative for Costello syndrome, with the c.34G > A (p.G12S) mutation as the most commonly found alteration. 20979192 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 Enhanced human brain associative plasticity in Costello syndrome. 20660566 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 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 G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level. 19669404 2009
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder)
0.900 GeneticVariation BEFREE Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. 19206176 2009
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder)
A 0.900 CausalMutation CLINVAR Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia. 19382114 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 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. 19206176 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 Partially correlated thin annular sources: the scalar case. 18978862 2008