Variant: rs121913293 

    present in Gene: PTEN
    present in Chromosome: 10
    Position on Chromosome: 87952142
    Alleles of this Variant: C/A;T

rs121913293 in PTEN gene and Brain Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs121913293 in PTEN gene and CEREBELLOPARENCHYMAL DISORDER VI PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

rs121913293 in PTEN gene and Cerebellar Granule Cell Hypertrophy and Megalencephaly PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

rs121913293 in PTEN gene and Hamartoma Syndrome, Multiple PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

rs121913293 in PTEN gene and Lhermitte-Duclos disease PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

rs121913293 in PTEN gene and MACROCEPHALY/AUTISM SYNDROME PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

rs121913293 in PTEN gene and Neoplastic Syndromes, Hereditary PMID 10866302 2000 Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.

PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

rs121913293 in PTEN gene and PTEN Hamartoma Tumor Syndrome PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

PMID 10866302 2000 Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.

PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

rs121913293 in PTEN gene and Proteus-Like Syndrome (disorder) PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

rs121913293 in PTEN gene and Pten Hamartoma Tumor Syndrome With Granular Cell Tumor PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

rs121913293 in PTEN gene and VACTERL Association With Hydrocephalus PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.