RRAS, RAS related, 6237

N. diseases: 149; N. variants: 3
Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368625677
rs368625677
Entrez Id: 6237
Gene Symbol: RRAS
RRAS
CUI: C0028326
Disease:
Noonan Syndrome 		0.010 GeneticVariation BEFREE We report on two germline mutations (p.Gly39dup and p.Val55Met) in RRAS, a gene encoding a small monomeric GTPase controlling cell adhesion, spreading and migration, underlying a rare (2 subjects among 504 individuals analysed) and variable phenotype with features partially overlapping Noonan syndrome, the most common RASopathy. 24705357 2014