Variant: rs104894229 

    present in Gene: LRRC56;HRAS
    present in Chromosome: 11
    Position on Chromosome: 534289
    Alleles of this Variant: C/A;G;T

rs104894229 in LRRC56;HRAS gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Adenocarcinoma of pancreas PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Adenocarcinoma of prostate PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Adenoid Cystic Carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Carcinoma of bladder PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs104894229 in LRRC56;HRAS gene and Coarse facial features PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

rs104894229 in LRRC56;HRAS gene and Colorectal Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 16478791 2006 APC inhibits ERK pathway activation and cellular proliferation induced by RAS.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Congestive heart failure PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

rs104894229 in LRRC56;HRAS gene and Costello syndrome (disorder) PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 18039947 2008 Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series.

PMID 18978862 2008 Partially correlated thin annular sources: the scalar case.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16969868 2006 De novo heterozygous HRAS point mutations have been reported in more than 81 patients with Costello syndrome (CS), but genotype/phenotype correlation remains incomplete because the majority of patients share a common mutation, G12S, seen in 65/81 (80%).

PMID 18247425 2008 More than 80% of patients with Costello syndrome share the same underlying mutation, resulting in a G12S amino acid change.

PMID 17412879 2007 Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.

PMID 19382114 2009 Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

PMID 19995790 2010 Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

PMID 16835863 2006 Paternal bias in parental origin of HRAS mutations in Costello syndrome.

PMID 20979192 2010 Heterozygous missense mutations in HRAS are causative for Costello syndrome, with the c.34G > A (p.G12S) mutation as the most commonly found alteration.

PMID 20660566 2010 Enhanced human brain associative plasticity in Costello syndrome.

PMID 23751039 2013 Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 21834037 2011 Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

PMID 19371735 2009 Costello syndrome H-Ras alleles regulate cortical development.

PMID 19669404 2009 Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level.

PMID 21850009 2011 In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 22317973 2012 C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.

PMID 22926243 2012 Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

PMID 29493581 2018 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

rs104894229 in LRRC56;HRAS gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Deep palmar crease PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Esophageal carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Glioblastoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Hydrocephalus PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Hypertrophic Cardiomyopathy PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Isolated somatotropin deficiency PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Leukemia, Myelocytic, Acute PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Liver carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Multiple Myeloma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Muscle hypotonia PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 19382114 2009 Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

PMID 22926243 2012 Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

PMID 21850009 2011 HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Nasopharyngeal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Papillary renal cell carcinoma, sporadic PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Papilloma PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Poor respiratory effort PMID 21850009 2011 HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 19382114 2009 Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

PMID 22926243 2012 Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

rs104894229 in LRRC56;HRAS gene and Pulmonary Stenosis PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Scoliosis, unspecified PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

rs104894229 in LRRC56;HRAS gene and Serous cystadenocarcinoma ovary PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Squamous cell carcinoma of skin PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Squamous cell carcinoma of the head and neck PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Subglottic stenosis PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

rs104894229 in LRRC56;HRAS gene and Thyroid Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 19773371 2009 Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma.

PMID 23406027 2013 Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer.

PMID 17384584 2007 Hyperactive Ras in developmental disorders and cancer.

PMID 19255327 2009 Phase II trial of sorafenib in metastatic thyroid cancer.

rs104894229 in LRRC56;HRAS gene and Transitional cell carcinoma of bladder PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Uterine Carcinosarcoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and Uterine Cervical Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.