Variant: rs104894228 

    present in Gene: LRRC56;HRAS
    present in Chromosome: 11
    Position on Chromosome: 534286
    Alleles of this Variant: C/A;G;T

rs104894228 in LRRC56;HRAS gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894228 in LRRC56;HRAS gene and Adenocarcinoma of pancreas PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894228 in LRRC56;HRAS gene and Chronic Lymphocytic Leukemia PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894228 in LRRC56;HRAS gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894228 in LRRC56;HRAS gene and Costello syndrome (disorder) 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 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 23093928 2012 A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 17211612 2007 An unexpected new role of mutant Ras: perturbation of human embryonic development.

PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

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

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

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

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 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 21438134 2011 To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p.G13C and individuals with p.G12S.

rs104894228 in LRRC56;HRAS gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894228 in LRRC56;HRAS gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894228 in LRRC56;HRAS gene and Leukemia, Myelocytic, Acute PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894228 in LRRC56;HRAS gene and Liver carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894228 in LRRC56;HRAS gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894228 in LRRC56;HRAS gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894228 in LRRC56;HRAS gene and Multiple Myeloma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894228 in LRRC56;HRAS gene and Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs104894228 in LRRC56;HRAS gene and Nevus Sebaceus of Jadassohn PMID 22683711 2012 Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

rs104894228 in LRRC56;HRAS gene and Nevus sebaceous PMID 23096712 2013 Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.

rs104894228 in LRRC56;HRAS gene and Noonan Syndrome PMID 21438134 2011 Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

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

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

rs104894228 in LRRC56;HRAS gene and Squamous cell carcinoma of lung PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894228 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.

rs104894228 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.

rs104894228 in LRRC56;HRAS gene and Thyroid Neoplasm 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 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 17384584 2007 Hyperactive Ras in developmental disorders and cancer.

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

rs104894228 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.

rs104894228 in LRRC56;HRAS gene and Uterine Cervical Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.