Gene: SHOC2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607048
rs267607048
SHOC2
G 0.750 CausalMutation CLINVAR Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. 24458587

2014
dbSNP: rs267607048
rs267607048
SHOC2
G 0.750 CausalMutation CLINVAR Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. 24458596

2014
dbSNP: rs267607048
rs267607048
SHOC2
G 0.750 CausalMutation CLINVAR The recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair. 23918763

2013
dbSNP: rs267607048
rs267607048
SHOC2
G 0.750 CausalMutation CLINVAR Clinical testing of genes causative of Noonan syndrome and related disorders detected the previously reported, pathogenic, de novo SHOC2 missense mutation predicting p.Ser2Gly. 22528146

2012
dbSNP: rs267607048
rs267607048
SHOC2
G 0.750 CausalMutation CLINVAR Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. 20882035

2010
dbSNP: rs267607048
rs267607048
SHOC2
G 0.750 CausalMutation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605

2009