chr11:532242:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr11:532,242-535,576 
hg38 chr11:532,242-535,576

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.131 squamous cell carcinoma NA BeFree,CTD_human,LHGDN Detail
0.123 Carcinoma, Transitional Cell NA BeFree,CTD_human,GAD Detail
0.120 Neoplastic Cell Transformation NA CTD_human Detail
<0.001 Malignant tumor of cervix NA BeFree Detail
<0.001 Developmental Disabilities To address this question, the astroglial lineage was investigated in two model s... BeFree 25947161 Detail
<0.001 ulcerative colitis NA BeFree Detail
<0.001 Colonic Diseases NA BeFree Detail
0.003 Colonic Neoplasms NA BeFree,LHGDN Detail
0.005 colorectal carcinoma NA BeFree,GAD Detail
0.023 Colorectal Neoplasms NA BeFree,GAD,LHGDN Detail
0.002 Common Bile Duct Neoplasms NA GAD Detail
0.120 adenoid cystic carcinoma NA CTD_human Detail
0.080 Diabetes Mellitus, Experimental NA RGD Detail
<0.001 Diabetes Mellitus, Insulin-Dependent NA BeFree Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
0.080 diabetic retinopathy NA RGD Detail
<0.001 Dwarfism NA BeFree Detail
<0.001 dysplastic nevus syndrome NA BeFree Detail
0.003 Endometrial Neoplasms NA LHGDN Detail
<0.001 Exanthema NA BeFree Detail
<0.001 fibrosarcoma NA BeFree Detail
0.002 Gastrointestinal Neoplasms NA GAD Detail
0.003 glioblastoma NA BeFree,LHGDN Detail
<0.001 Glioma NA BeFree Detail
<0.001 membranous glomerulonephritis NA BeFree Detail
<0.001 Graves Disease NA BeFree Detail
0.123 Hemangiosarcoma NA BeFree,CTD_human,LHGDN Detail
0.003 hepatitis C NA LHGDN Detail
<0.001 hyperinsulinism NA BeFree Detail
<0.001 hyperparathyroidism NA BeFree Detail
<0.001 Immunologic Deficiency Syndromes NA BeFree Detail
<0.001 keratoacanthoma NA BeFree Detail
<0.001 keratosis NA BeFree Detail
0.004 actinic keratosis NA BeFree,LHGDN Detail
<0.001 Fibroid Tumor NA BeFree Detail
<0.001 leukemia NA BeFree Detail
0.008 Leukemia, Myelocytic, Acute NA BeFree,LHGDN Detail
0.004 Myeloid Leukemia, Chronic NA BeFree,LHGDN Detail
<0.001 Leukemia, Myelomonocytic, Chronic NA BeFree Detail
<0.001 leukopenia NA BeFree Detail
0.122 Liver neoplasms NA BeFree,CTD_human Detail
0.120 Liver Neoplasms, Experimental NA CTD_human Detail
0.002 long QT syndrome NA BeFree Detail
0.121 Lung Neoplasms NA BeFree,CTD_human Detail
<0.001 lymphoma NA BeFree Detail
0.002 Malignant neoplasm of stomach NA BeFree Detail
0.120 Animal Mammary Neoplasms NA CTD_human Detail
0.200 Mammary Neoplasms, Experimental NA CTD_human,RGD Detail
0.006 melanoma NA BeFree Detail
<0.001 multiple endocrine neoplasia type 1 NA BeFree Detail
<0.001 Mental Retardation NA BeFree Detail
<0.001 Monoclonal Gammopathy of Undetermined Significance NA BeFree Detail
0.202 Mouth Neoplasms NA CTD_human,GAD,RGD Detail
0.003 multiple myeloma NA BeFree,LHGDN Detail
0.003 myopathy NA LHGDN Detail
<0.001 Myelodysplasia NA BeFree Detail
<0.001 Nausea NA BeFree Detail
<0.001 Neck Neoplasms NA BeFree Detail
0.120 Neoplasm Invasiveness NA CTD_human Detail
0.008 Neoplasm Metastasis NA BeFree,GAD Detail
0.002 Neoplasm Recurrence, Local NA GAD Detail
0.120 Neoplasms, Experimental NA CTD_human Detail
0.002 nephroblastoma NA BeFree Detail
0.123 neuroblastoma NA BeFree,CTD_human Detail
<0.001 neurofibromatosis 1 NA BeFree Detail
<0.001 Neuromuscular Diseases NA BeFree Detail
<0.001 Nevus TB and SCAP associated with sebaceous nevi have been shown to carry the same HRA... BeFree 25532942 Detail
0.004 Melanocytic nevus TB and SCAP associated with sebaceous nevi have been shown to carry the same HRA... BeFree,LHGDN 25532942 Detail
0.121 Noonan syndrome NA BeFree,CTD_human Detail
<0.001 obesity NA BeFree Detail
<0.001 osteosarcoma NA BeFree Detail
0.002 ovarian carcinoma NA BeFree Detail
0.003 Pancreatic Diseases NA LHGDN Detail
0.006 Pancreatic Neoplasm NA BeFree,GAD,LHGDN Detail
0.002 pancreatitis NA GAD Detail
0.126 papilloma NA BeFree,CTD_human,LHGDN Detail
0.120 Penile Neoplasms NA CTD_human Detail
0.121 Precancerous Conditions NA BeFree,CTD_human Detail
<0.001 Preleukemia NA BeFree Detail
<0.001 Prostatic Neoplasms NA BeFree Detail
0.003 Rectal Neoplasms NA LHGDN Detail
<0.001 retinoblastoma It is unique among the epithelial carcinomas as two distinct pathways to tumouri... BeFree 26274747 Detail
0.004 rhabdomyosarcoma NA BeFree,LHGDN Detail
0.002 schistosomiasis NA GAD Detail
0.003 systemic scleroderma NA BeFree,LHGDN Detail
0.120 seminoma NA BeFree,CTD_human Detail
0.121 Skin Neoplasms NA BeFree,CTD_human Detail
0.123 Stomach Neoplasms NA BeFree,CTD_human,LHGDN Detail
<0.001 Sweat Gland Neoplasms Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical ... BeFree 24628623 Detail
<0.001 Testicular Neoplasms NA BeFree Detail
<0.001 thanatophoric dysplasia NA BeFree Detail
<0.001 thymoma NA BeFree Detail
0.136 Thyroid Neoplasm NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 Thyroid Nodule NA BeFree Detail
0.120 Tongue Neoplasms NA BeFree,CTD_human Detail
<0.001 Uterine Fibroids NA BeFree Detail
<0.001 Vascular Diseases Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_3... BeFree 25133308 Detail
<0.001 plantar wart NA BeFree Detail
<0.001 Virus Diseases NA BeFree Detail
<0.001 xeroderma pigmentosum NA BeFree Detail
<0.001 severe combined immunodeficiency NA BeFree Detail
<0.001 acute leukemia NA BeFree Detail
<0.001 benign neoplasm NA BeFree Detail
<0.001 Pancreatitis, Chronic NA BeFree Detail
<0.001 Squamous cell carcinoma of lung NA BeFree Detail
<0.001 Small cell carcinoma of lung NA BeFree Detail
<0.001 Oral Cavity Carcinoma NA BeFree Detail
<0.001 Cutaneous Melanoma NA BeFree Detail
<0.001 esophageal carcinoma NA BeFree Detail
0.006 Malignant neoplasm of mouth NA BeFree,GAD Detail
<0.001 Malignant neoplasm of penis NA BeFree Detail
0.001 Secondary malignant neoplasm of lung NA BeFree Detail
<0.001 Hypopigmentation disorder NA BeFree Detail
0.001 Tumor Progression NA BeFree Detail
<0.001 follicular adenoma NA BeFree Detail
<0.001 Germ cell tumor NA BeFree Detail
<0.001 Neuroectodermal Tumors NA BeFree Detail
<0.001 WAGR syndrome NA BeFree Detail
<0.001 Rhabdomyosarcoma, Embryonal NA BeFree Detail
<0.001 Neuroectodermal Tumor, Primitive NA BeFree Detail
<0.001 adrenal cortical adenoma NA BeFree Detail
0.121 hepatocellular adenoma NA BeFree,CTD_human Detail
0.002 Papillary and follicular adenocarcinoma NA GAD Detail
<0.001 adrenocortical carcinoma NA BeFree Detail
<0.001 Carcinoma, Large Cell NA BeFree Detail
0.004 Cervical Intraepithelial Neoplasia NA BeFree,LHGDN Detail
<0.001 Nevus, Blue NA BeFree Detail
<0.001 Epithelioid and spindle cell nevus NA BeFree Detail
0.001 Lip and oral cavity carcinoma NA BeFree Detail
<0.001 pancreatic carcinoma NA BeFree Detail
<0.001 Medullary carcinoma of thyroid NA BeFree Detail
0.120 Papillary thyroid carcinoma NA ORPHANET Detail
0.006 Malignant neoplasm of lung NA BeFree,GAD Detail
0.120 Disease Progression NA CTD_human Detail
<0.001 Organoid Nevus Phakomatosis NA BeFree Detail
<0.001 Abnormal mental state Our data indicate that astrocytes expressing mutant HRAS dysregulate cortical ma... BeFree 25947161 Detail
<0.001 Cancer of Head and Neck NA BeFree Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma NA BeFree Detail
<0.001 Philadelphia chromosome positive chronic myelogenous leukemia NA BeFree Detail
<0.001 cervical squamous cell carcinoma NA BeFree Detail
0.001 Solid tumour NA BeFree Detail
0.003 cervix carcinoma NA BeFree,GAD Detail
<0.001 NEVUS, EPIDERMAL (disorder) NA BeFree Detail
<0.001 Multiple polyps NA BeFree Detail
<0.001 Trichilemmoma Frequent activating HRAS mutations in trichilemmoma. BeFree 24890286 Detail
<0.001 Papillary transitional cell carcinoma NA BeFree Detail
<0.001 Microfollicular adenoma NA BeFree Detail
<0.001 Dermatofibrosarcoma Protuberans, Myxoid NA BeFree Detail
<0.001 malignant fibrous histiocytoma NA BeFree Detail
<0.001 fibrillary astrocytoma NA BeFree Detail
<0.001 Adenocarcinoma of colon NA BeFree Detail
<0.001 Malignant neoplasm of liver NA BeFree Detail
<0.001 Angiosarcoma of liver NA BeFree Detail
<0.001 Large cell carcinoma of lung NA BeFree Detail
<0.001 Syringocystadenoma Using a RAS SNaPshot assay, HRAS mutations were detected in 2 (11%) of 18 sporad... BeFree 25532942 Detail
<0.001 Breast Cancer, Familial NA BeFree Detail
<0.001 Malignant neoplasm of pancreas NA BeFree Detail
<0.001 Cervical intraepithelial neoplasia grade 1 NA BeFree Detail
<0.001 Cervical intraepithelial neoplasia grade 2 NA BeFree Detail
<0.001 prediabetes syndrome NA BeFree Detail
0.001 Malignant neoplasm of prostate NA BeFree Detail
<0.001 syringocystadenoma papilliferum TB and SCAP associated with sebaceous nevi have been shown to carry the same HRA... BeFree 25532942 Detail
<0.001 Follicular neoplasm NA BeFree Detail
<0.001 Plasma cell tumor, malignant NA BeFree Detail
<0.001 endometrial carcinoma NA BeFree Detail
<0.001 dyslexia NA BeFree Detail
<0.001 Recurrent tumor NA BeFree Detail
<0.001 Mixed oligoastrocytoma NA BeFree Detail
0.004 Thyroid carcinoma NA BeFree,GAD Detail
<0.001 Squamous cell carcinoma of skin NA BeFree Detail
0.455 Costello syndrome (disorder) Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_3... BeFree,CTD_human,MGD,ORPHANET,UNIPROT 25133308 Detail
0.455 Costello syndrome (disorder) Costello syndrome (CS) is a rare genetic disorder caused, in the majority of cas... BeFree,CTD_human,MGD,ORPHANET,UNIPROT 25367099 Detail
0.455 Costello syndrome (disorder) Human iPSCs derived from patients with Costello syndrome differentiated to astro... BeFree,CTD_human,MGD,ORPHANET,UNIPROT 25947161 Detail
0.017 Carcinogenesis NA BeFree Detail
<0.001 Chemical Carcinogenesis NA BeFree Detail
0.001 prostate carcinoma NA BeFree Detail
0.003 Epithelial ovarian cancer NA BeFree,GAD Detail
<0.001 Progressive Neoplastic Disease NA BeFree Detail
0.009 breast carcinoma NA BeFree Detail
0.005 Carcinoma of lung NA BeFree Detail
<0.001 Secondary malignant neoplasm of lymph node NA BeFree Detail
<0.001 Congenital muscular dystrophy (disorder) Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a ... BeFree 25070542 Detail
0.002 colon carcinoma NA BeFree Detail
0.002 stomach carcinoma NA BeFree Detail
0.010 Carcinoma of bladder NA BeFree Detail
0.001 Central neuroblastoma NA BeFree Detail
<0.001 Brain Tumor, Primary NA BeFree Detail
<0.001 Spots on skin NA BeFree Detail
<0.001 Adenomatous polyp of colon NA BeFree Detail
<0.001 Carcinoma in situ of uterine cervix NA BeFree Detail
<0.001 penis carcinoma NA BeFree Detail
<0.001 Rhabdoid Tumor of the Kidney Using mutant HRAS (HRAS*) as an oncogenic prototype, we obtained evidence in tra... BeFree 25795707 Detail
<0.001 breast adenocarcinoma NA BeFree Detail
0.001 Carcinogenicity NA BeFree Detail
<0.001 Hyperkeratosis NA BeFree Detail
0.003 ovarian neoplasm NA BeFree,LHGDN Detail
<0.001 Plasma cell dyscrasia NA BeFree Detail
<0.001 Monoclonal Gammapathies NA BeFree Detail
0.002 Malignant neoplasm of ovary NA BeFree Detail
0.001 Squamous cell carcinoma of the head and neck HRAS mutations and resistance to the epidermal growth factor receptor tyrosine k... BeFree 24123531 Detail
<0.001 ileus NA BeFree Detail
0.006 sarcoma NA BeFree,GAD Detail
0.121 Cardio-facio-cutaneous syndrome NA BeFree,CTD_human Detail
0.003 Adenoma of large intestine NA BeFree,GAD Detail
<0.001 Mental handicap Our data indicate that astrocytes expressing mutant HRAS dysregulate cortical ma... BeFree 25947161 Detail
<0.001 Cerebellar Glioblastoma NA BeFree Detail
<0.001 High Grade Cervical Intraepithelial Neoplasia NA BeFree Detail
0.002 Necrotic changes (finding) NA GAD Detail
<0.001 Carcinoma of urinary bladder, superficial NA BeFree Detail
<0.001 Benign melanocytic nevus TB and SCAP associated with sebaceous nevi have been shown to carry the same HRA... BeFree 25532942 Detail
0.128 Mammary Neoplasms NA BeFree,CTD_human,LHGDN Detail
<0.001 Autism Spectrum Disorders These additional features improve phenotype delineation in individuals with rare... BeFree 25367099 Detail
<0.001 Hepatocarcinogenesis NA BeFree Detail
<0.001 Hereditary Melanoma NA BeFree Detail
<0.001 Mammary Tumorigenesis NA BeFree Detail
<0.001 Malignant Conversion NA BeFree Detail
0.002 Skin Carcinogenesis Mutations in key genes, including TP53, BRM, PTCH1, and HRAS, contribute to skin... BeFree 25561201 Detail
0.009 colorectal cancer NA BeFree,GAD Detail
<0.001 Neoplasms, Intracranial NA BeFree Detail
<0.001 Non-Neoplastic Disorder NA BeFree Detail
<0.001 trichohepatoenteric syndrome NA BeFree Detail
<0.001 THANATOPHORIC DYSPLASIA, TYPE I (disorder) NA BeFree Detail
<0.001 uterine corpus cancer NA BeFree Detail
<0.001 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma NA BeFree Detail
0.123 liver carcinoma NA BeFree,CTD_human Detail
<0.001 Human Papillomavirus Positive Oropharyngeal Squamous Cell Carcinoma NA BeFree Detail
0.120 Thyroid cancer, follicular NA CTD_human Detail
0.121 Phacomatosis pigmentokeratotica Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical ... BeFree,ORPHANET 24628623 Detail
<0.001 Nasopharyngeal carcinoma NA BeFree Detail
<0.001 myelodysplastic syndrome NA BeFree Detail
<0.001 Progressive cGVHD NA BeFree Detail
<0.001 Melanocytic nevus of skin TB and SCAP associated with sebaceous nevi have been shown to carry the same HRA... BeFree 25532942 Detail
<0.001 Mammary adenocarcinoma NA BeFree Detail
0.003 Infection NA LHGDN Detail
<0.001 Fibromyxosarcoma NA BeFree Detail
<0.001 intellectual disability To address this question, the astroglial lineage was investigated in two model s... BeFree 25947161 Detail
<0.001 Experimental Organism Basal Cell Carcinoma NA BeFree Detail
0.360 Nevus sebaceous NA CTD_human,ORPHANET,UNIPROT Detail
0.007 adenocarcinoma NA BeFree,LHGDN Detail
0.002 papillary adenocarcinoma NA GAD Detail
0.003 adenoma NA BeFree,GAD Detail
<0.001 Amputation Stumps NA BeFree Detail
0.001 aniridia NA BeFree Detail
<0.001 Astrocytoma NA BeFree Detail
0.006 melanoma Association between HRAS rs12628 and rs112587690 polymorphisms with the risk of ... BeFree 22618666 Detail
0.123 autistic disorder NA BeFree,CTD_human,GAD Detail
<0.001 Beckwith-Wiedemann syndrome NA BeFree Detail
<0.001 bipolar disorder NA BeFree Detail
0.011 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.125 Bladder Neoplasm NA BeFree,CTD_human,GAD Detail
<0.001 Blast Phase NA BeFree Detail
<0.001 Bone Diseases, Developmental NA BeFree Detail
0.003 Brain Neoplasms NA BeFree,LHGDN Detail
0.011 Malignant neoplasm of breast NA BeFree,GAD Detail
<0.001 Breast Diseases NA BeFree Detail
<0.001 Malignant tumor of colon NA BeFree Detail
<0.001 Malignant neoplasm of endometrium NA BeFree Detail
0.001 Malignant neoplasm of skin NA BeFree Detail
0.001 Malignant neoplasm of thyroid NA BeFree Detail
<0.001 Bronchogenic Carcinoma NA BeFree Detail
<0.001 Merkel cell carcinoma In addition to previously identified mutations in TP53, RB1, and PIK3CA, we disc... BeFree 26238782 Detail
0.001 Non-small cell lung carcinoma NA BeFree Detail
0.005 Carcinoma, Papillary NA BeFree,GAD Detail
Annotation

Annotations

DescrptionSourceLinks
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To address this question, the astroglial lineage was investigated in two model systems of a developm... DisGeNET Detail
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TB and SCAP associated with sebaceous nevi have been shown to carry the same HRAS mutation as the un... DisGeNET Detail
TB and SCAP associated with sebaceous nevi have been shown to carry the same HRAS mutation as the un... DisGeNET Detail
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It is unique among the epithelial carcinomas as two distinct pathways to tumourigenesis appear to ex... DisGeNET Detail
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Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in pha... DisGeNET Detail
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Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-asso... DisGeNET Detail
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Our data indicate that astrocytes expressing mutant HRAS dysregulate cortical maturation during deve... DisGeNET Detail
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Frequent activating HRAS mutations in trichilemmoma. DisGeNET Detail
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Using a RAS SNaPshot assay, HRAS mutations were detected in 2 (11%) of 18 sporadic TB and 6 (26%) of... DisGeNET Detail
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TB and SCAP associated with sebaceous nevi have been shown to carry the same HRAS mutation as the un... DisGeNET Detail
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Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-asso... DisGeNET Detail
Costello syndrome (CS) is a rare genetic disorder caused, in the majority of cases, by germline miss... DisGeNET Detail
Human iPSCs derived from patients with Costello syndrome differentiated to astroglia more rapidly in... DisGeNET Detail
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Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caus... DisGeNET Detail
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Using mutant HRAS (HRAS*) as an oncogenic prototype, we obtained evidence in transgenic mice that RT... DisGeNET Detail
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HRAS mutations and resistance to the epidermal growth factor receptor tyrosine kinase inhibitor erlo... DisGeNET Detail
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Our data indicate that astrocytes expressing mutant HRAS dysregulate cortical maturation during deve... DisGeNET Detail
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TB and SCAP associated with sebaceous nevi have been shown to carry the same HRAS mutation as the un... DisGeNET Detail
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These additional features improve phenotype delineation in individuals with rare HRAS mutations, fac... DisGeNET Detail
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Mutations in key genes, including TP53, BRM, PTCH1, and HRAS, contribute to skin carcinogenesis.UV a... DisGeNET Detail
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Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in pha... DisGeNET Detail
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TB and SCAP associated with sebaceous nevi have been shown to carry the same HRAS mutation as the un... DisGeNET Detail
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To address this question, the astroglial lineage was investigated in two model systems of a developm... DisGeNET Detail
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Association between HRAS rs12628 and rs112587690 polymorphisms with the risk of melanoma in the Nort... DisGeNET Detail
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In addition to previously identified mutations in TP53, RB1, and PIK3CA, we discovered activating mu... DisGeNET Detail
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Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs112587690 dbSNP
Genome
hg38
Position
chr11:532,242-535,576
Variant Type
snv
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