|
rs104894228
|
HRAS;LRRC56
|
Nevus sebaceous
|
G |
0.700 |
CausalMutation |
CLINVAR |
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.
|
23096712 |
2013 |
|
rs727503094
|
HRAS;LRRC56
|
Costello syndrome (disorder)
|
|
0.750 |
GeneticVariation |
BEFREE |
Whole exome sequencing (WES) revealed a previously well established, disease-causing heterozygous likely pathogenic variant in the Harvey rat sarcoma viral oncogene homolog (HRAS)-gene (c.35G > C, p. G12A, rs104894230), which implied the clinical diagnosis of Costello syndrome (CS; OMIM#190020.0004).
|
30885829 |
2019 |
|
rs104894230
|
HRAS;LRRC56
|
Costello syndrome (disorder)
|
|
0.840 |
GeneticVariation |
BEFREE |
Whole exome sequencing (WES) revealed a previously well established, disease-causing heterozygous likely pathogenic variant in the Harvey rat sarcoma viral oncogene homolog (HRAS)-gene (c.35G > C, p. G12A, rs104894230), which implied the clinical diagnosis of Costello syndrome (CS; OMIM#190020.0004).
|
30885829 |
2019 |
|
rs104894230
|
HRAS;LRRC56
|
Brain Neoplasms
|
|
0.020 |
GeneticVariation |
BEFREE |
When expressed under the control of the krt5 gene promoter, KRAS(G12V) induced bra</span>in tumors in ventricular zones (VZ) at low frequency.
|
25644510 |
2015 |
|
rs727503094
|
HRAS;LRRC56
|
Brain Neoplasms
|
|
0.020 |
GeneticVariation |
BEFREE |
When expressed under the control of the krt5 gene promoter, KRAS(G12V) induced bra</span>in tumors in ventricular zones (VZ) at low frequency.
|
25644510 |
2015 |
|
rs104894230
|
HRAS;LRRC56
|
Childhood Leukemia
|
|
0.010 |
GeneticVariation |
BEFREE |
We successfully established a mouse model of human leukemia by transplanting bone marrow cells co-transfected with the K-ras (G12D) mutation and AML1/ETO fusion protein.
|
24480914 |
2014 |
|
rs104894230
|
HRAS;LRRC56
|
leukemia
|
|
0.010 |
GeneticVariation |
BEFREE |
We successfully established a mouse model of human leukemia by transplanting bone marrow cells co-transfected with the K-ras (G12D) mutation and AML1/ETO fusion protein.
|
24480914 |
2014 |
|
rs727503094
|
HRAS;LRRC56
|
Childhood Leukemia
|
|
0.010 |
GeneticVariation |
BEFREE |
We successfully established a mouse model of human leukemia by transplanting bone marrow cells co-transfected with the K-ras (G12D) mutation and AML1/ETO fusion protein.
|
24480914 |
2014 |
|
rs727503094
|
HRAS;LRRC56
|
leukemia
|
|
0.010 |
GeneticVariation |
BEFREE |
We successfully established a mouse model of human leukemia by transplanting bone marrow cells co-transfected with the K-ras (G12D) mutation and AML1/ETO fusion protein.
|
24480914 |
2014 |
|
rs28933406
|
HRAS;LRRC56
|
Sarcoma
|
|
0.010 |
GeneticVariation |
BEFREE |
We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant proteins.
|
23382236 |
2013 |
|
rs28933406
|
HRAS;LRRC56
|
Malignant neoplasm of soft tissue
|
|
0.010 |
GeneticVariation |
BEFREE |
We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant proteins.
|
23382236 |
2013 |
|
rs104894226
|
HRAS;LRRC56
|
Hematologic Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis.
|
17517660 |
2007 |
|
rs104894226
|
HRAS;LRRC56
|
Autoimmune Lymphoproliferative Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis.
|
17517660 |
2007 |
|
rs12628
|
HRAS;LRRC56
|
Neoplasms
|
|
0.020 |
GeneticVariation |
BEFREE |
We screened the exons 1 and 2 of RAS genes (HRAS, KRAS, and NRAS) in 60 consecutive thyroid tissue (tumor and adjacent normal) samples, and a case-control study was also conducted for HRAS T81C polymorphism in HRAS codon 27 using the polymerase chain reaction-restriction fragment length polymorphism to test the genotype distribution of 140 thyroid cancer patients in comparison with 170 cancer-free controls from a Kashmiri population.
|
23150177 |
2013 |
|
rs104894230
|
HRAS;LRRC56
|
Pilocytic Astrocytoma
|
|
0.010 |
GeneticVariation |
BEFREE |
We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma.
|
17712732 |
2007 |
|
rs104894230
|
HRAS;LRRC56
|
Adult Pilocytic Astrocytoma
|
|
0.010 |
GeneticVariation |
BEFREE |
We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma.
|
17712732 |
2007 |
|
rs104894230
|
HRAS;LRRC56
|
Childhood Pilocytic Astrocytoma
|
|
0.010 |
GeneticVariation |
BEFREE |
We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma.
|
17712732 |
2007 |
|
rs727503094
|
HRAS;LRRC56
|
Adult Pilocytic Astrocytoma
|
|
0.010 |
GeneticVariation |
BEFREE |
We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma.
|
17712732 |
2007 |
|
rs727503094
|
HRAS;LRRC56
|
Pilocytic Astrocytoma
|
|
0.010 |
GeneticVariation |
BEFREE |
We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma.
|
17712732 |
2007 |
|
rs727503094
|
HRAS;LRRC56
|
Childhood Pilocytic Astrocytoma
|
|
0.010 |
GeneticVariation |
BEFREE |
We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma.
|
17712732 |
2007 |
|
rs121917758
|
HRAS;LRRC56
|
Macrocephaly
|
|
0.010 |
GeneticVariation |
BEFREE |
We reviewed the phenotype in the newly identified individuals (Patient 1, 2) and include updated information on the first previously reported individual with HRAS p.T58I (Patient 3).Macrocephaly was present in all three.
|
22488832 |
2012 |
|
rs104894228
|
HRAS;LRRC56
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation |
BEFREE |
We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life.
|
19213030 |
2009 |
|
rs104894231
|
HRAS;LRRC56
|
Hypertrophic obstructive cardiomyopathy
|
|
0.010 |
GeneticVariation |
BEFREE |
We report on a patient with de novo missense mutation causing an amino acid change at codon 146 of HRAS, c.436G > C:p.Ala146Pro, who presented with subtle dysmorphic features, failure to thrive, global developmental delay, and hypertrophic obstructive cardiomyopathy.
|
28328122 |
2017 |
|
rs104894230
|
HRAS;LRRC56
|
Costello syndrome (disorder)
|
T |
0.840 |
CausalMutation |
CLINVAR |
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.
|
17979197 |
2008 |
|
rs104894230
|
HRAS;LRRC56
|
Costello syndrome (disorder)
|
G |
0.840 |
CausalMutation |
CLINVAR |
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.
|
17979197 |
2008 |