Variant: rs886041877 

    present in Gene: PTEN
    present in Chromosome: 10
    Position on Chromosome: 87894025
    Alleles of this Variant: A/C;G

rs886041877 in PTEN gene and Dysmorphic features PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.

PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.

PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.

rs886041877 in PTEN gene and Movement Disorders PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.

PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.

PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.

PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

rs886041877 in PTEN gene and Multiple congenital anomalies PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.

PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.

PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.

PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

rs886041877 in PTEN gene and Muscle hypotonia PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.

PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.

PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.

PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.