rs267606920, NRAS

N. diseases: 4
Disease: Noonan Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.010 GeneticVariation BEFREE The c.179G>A (p.G60E) mutation was identified in two patients with typical NS, confirming that NRAS germline mutations are a rare cause of this syndrome. 22887781 2012