Variant: rs267607048 

    present in Gene: SHOC2
    present in Chromosome: 10
    Position on Chromosome: 110964362
    Alleles of this Variant: A/G

rs267607048 in SHOC2 gene and Congenital anomaly of face PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

rs267607048 in SHOC2 gene and Developmental delay (disorder) PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

rs267607048 in SHOC2 gene and Dysmorphic features PMID 25137548 2014 A Novel SHOC2 Variant in Rasopathy.

PMID 25331583 2014 Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.

PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

PMID 23918763 2013 Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

PMID 25846317 2015 Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

PMID 21548061 2011 Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

rs267607048 in SHOC2 gene and Intellectual Disability PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

rs267607048 in SHOC2 gene and Multiple congenital anomalies PMID 25137548 2014 A Novel SHOC2 Variant in Rasopathy.

PMID 25846317 2015 Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

PMID 21548061 2011 Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

PMID 23918763 2013 Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

PMID 25331583 2014 Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.

PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

rs267607048 in SHOC2 gene and Muscle hypotonia PMID 21548061 2011 Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

PMID 23918763 2013 Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

PMID 25137548 2014 A Novel SHOC2 Variant in Rasopathy.

PMID 25331583 2014 Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.

PMID 25846317 2015 Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

rs267607048 in SHOC2 gene and NOONAN SYNDROME 3 PMID 23786871 2013 Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

PMID 20882035 2010 Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.

PMID 21548061 2011 Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

PMID 23885229 2013 Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.

PMID 22253195 2012 Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.

PMID 22995099 2012 Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

PMID 22419608 2012 Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.

PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 23756559 2013 Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.

rs267607048 in SHOC2 gene and NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 PMID 24458587 2014 Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.

PMID 23918763 2013 Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

PMID 25137548 2014 A Novel SHOC2 Variant in Rasopathy.

PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

PMID 24458596 2014 Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.

PMID 21548061 2011 Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

PMID 25563136 2015 Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

rs267607048 in SHOC2 gene and Noonan Syndrome PMID 22528146 2012 Clinical testing of genes causative of Noonan syndrome and related disorders detected the previously reported, pathogenic, de novo SHOC2 missense mutation predicting p.Ser2Gly.

PMID 24458587 2014 Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.

PMID 23918763 2013 The recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair.

PMID 24458596 2014 Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.

PMID 20882035 2010 Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.

PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

rs267607048 in SHOC2 gene and Short stature PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.