HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 698; N. variants: 29
Disease: Costello syndrome (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917756
rs121917756
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.710 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: rs121917756
rs121917756
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.710 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