Variant: rs104894230 

    present in Gene: HRAS;LRRC56
    present in Chromosome: 11
    Position on Chromosome: 534288
    Alleles of this Variant: C/A;G;T

rs104894230 in HRAS;LRRC56 gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Adenocarcinoma of pancreas PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Adenocarcinoma of prostate PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Adenoid Cystic Carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Costello syndrome (disorder) PMID 18642361 2009 Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.

PMID 28027064 2017 In addition, a fatal course of CS was present in one patient with the p.G12A mutation and in another with p.G12S, there was a co-occurrence of Turner syndrome because of the distal Xp deletion.

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 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 21344638 2011 Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

PMID 27195699 2016 We identified an unusual, new germline p.Gly12Val mutation, c.35_36GC>TG, in a 12-year-old boy with attenuated CS.

PMID 24224811 2013 Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.

PMID 27589201 2016 Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.

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 2105486 1990 Carcinogen-induced mutations in the mouse c-Ha-ras gene provide evidence of multiple pathways for tumor progression.

PMID 17979197 2008 We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations.

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

PMID 20658932 2011 Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.

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 18247425 2008 Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

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 24169525 2014 HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome.

rs104894230 in HRAS;LRRC56 gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Esophageal carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Glioblastoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Leukemia, Myelocytic, Acute PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Liver carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs104894230 in HRAS;LRRC56 gene and Multiple Myeloma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Multiple congenital anomalies PMID 12210337 2002 Further delineation of cardiac abnormalities in Costello syndrome.

PMID 16155195 2006 The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

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

PMID 18470943 2008 The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

PMID 29073591 2017 Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.

PMID 17250658 2007 HRAS and the Costello syndrome.

PMID 14608654 2003 Costello syndrome and neurological abnormalities.

PMID 25914166 2015 An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

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

PMID 28390077 2017 Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

rs104894230 in HRAS;LRRC56 gene and Nasopharyngeal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Papillary renal cell carcinoma, sporadic PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Serous cystadenocarcinoma ovary PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Squamous cell carcinoma of skin PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 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.

rs104894230 in HRAS;LRRC56 gene and Thyroid Neoplasm PMID 23406027 2013 Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer.

PMID 17384584 2007 Hyperactive Ras in developmental disorders and cancer.

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

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

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

rs104894230 in HRAS;LRRC56 gene and Transitional cell carcinoma of bladder PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Uterine Carcinosarcoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and Uterine Cervical Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894230 in HRAS;LRRC56 gene and melanoma PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.