chr1:114716126:C>A Detail (hg38) (NRAS)

Information

Genome

Assembly Position
hg19 chr1:115,258,747-115,258,747 View the variant detail on this assembly version.
hg38 chr1:114,716,126-114,716,126

HGVS

Type Transcript Protein
RefSeq NM_002524.4:c.35G>T NP_002515.1:p.Gly12Val
Ensemble ENST00000369535.5:c.35G>T ENST00000369535.5:p.Gly12Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 164790 OMIM
HGNC 7989 HGNC
Ensembl ENSG00000213281 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM566 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2010-08-06 criteria provided, single submitter Noonan syndrome germline Detail
Pathogenic 2019-11-13 criteria provided, single submitter not provided germline Detail
Pathogenic 2014-10-02 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided acute myeloid leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided myelodysplastic syndrome somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2020-08-06 criteria provided, single submitter RASopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 diffuse large B-cell lymphoma Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic... BeFree 9139869 Detail
<0.001 chronic lymphocytic leukemia Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic... BeFree 9139869 Detail
0.240 NEVUS, EPIDERMAL (disorder) NA CLINVAR Detail
0.490 juvenile myelomonocytic leukemia NA CLINVAR Detail
0.360 Noonan syndrome 6 NA CLINVAR Detail
0.002 leukemia NRAS(G12V) maintained leukemia self-renewal through mTOR and MEK pathway activat... BeFree 25316678 Detail
0.236 melanoma In a limited validation of potentially actionable low frequency mutations, a NRA... BeFree 24885028 Detail
0.039 Leukemia, Myelocytic, Acute Injecting Mx1-Cre, LSL-Nras(G12D) mice with the MOL4070LTR retrovirus causes acu... BeFree 21163920 Detail
<0.001 Pre B-cell acute lymphoblastic leukemia Inducible, Cre-mediated deletion of Hspa5, Prdm1, and Xbp1 consistently induces ... BeFree 24821775 Detail
<0.001 Developmental Disabilities Expression of N-Ras-I24N, N-Ras-G60E or the strongly activating mutant N-Ras-G12... BeFree 21263000 Detail
0.039 Leukemia, Myelocytic, Acute To elucidate the downstream functions of activated NRAS in AML, we used a murine... BeFree 25316678 Detail
0.005 leukemia NRAS(G12V) maintained leukemia self-renewal through mTOR and MEK pathway activat... BeFree 25316678 Detail
0.005 leukemia Injecting Mx1-Cre, LSL-Nras(G12D) mice with the MOL4070LTR retrovirus causes acu... BeFree 21163920 Detail
<0.001 Nevus, Blue When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induc... BeFree 23303902 Detail
<0.001 Undifferentiated leukemia Analysis of the gene-expression patterns of leukemic subpopulations revealed tha... BeFree 25316678 Detail
0.001 Pre B-cell acute lymphoblastic leukemia Inducible, Cre-mediated deletion of Hspa5, Prdm1, and Xbp1 consistently induces ... BeFree 24821775 Detail
<0.001 leukemia In a multiplexed analysis of RAS-dependent signaling, Mac-1(Low) cells, which ha... BeFree 25316678 Detail
0.240 leukemia Using computational approaches to explore our gene-expression data sets, we foun... BeFree 25316678 Detail
0.236 melanoma When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induc... BeFree 23303902 Detail
0.006 Cutaneous Melanoma When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induc... BeFree 23303902 Detail
0.001 leukemia In a multiplexed analysis of RAS-dependent signaling, Mac-1(Low) cells, which ha... BeFree 25316678 Detail
<0.001 Acute Undifferentiated Leukemia Analysis of the gene-expression patterns of leukemic subpopulations revealed tha... BeFree 25316678 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) AND Noonan syndrome ClinVar Detail
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) AND not provided ClinVar Detail
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) AND Melanoma ClinVar Detail
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) AND Multiple myeloma ClinVar Detail
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) AND Gastric adenocarcinoma ClinVar Detail
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) AND Acute myeloid leukemia ClinVar Detail
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) AND Myelodysplastic syndrome ClinVar Detail
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) AND Malignant melanoma of skin ClinVar Detail
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) AND Neoplasm of the large intestine ClinVar Detail
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) AND RASopathy ClinVar Detail
Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) ha... DisGeNET Detail
Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) ha... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NRAS(G12V) maintained leukemia self-renewal through mTOR and MEK pathway activation, implicating the... DisGeNET Detail
In a limited validation of potentially actionable low frequency mutations, a NRAS G12D mutation in a... DisGeNET Detail
Injecting Mx1-Cre, LSL-Nras(G12D) mice with the MOL4070LTR retrovirus causes acute myeloid leukemia ... DisGeNET Detail
Inducible, Cre-mediated deletion of Hspa5, Prdm1, and Xbp1 consistently induces cellular stress and ... DisGeNET Detail
Expression of N-Ras-I24N, N-Ras-G60E or the strongly activating mutant N-Ras-G12V, which we included... DisGeNET Detail
To elucidate the downstream functions of activated NRAS in AML, we used a murine model that harbors ... DisGeNET Detail
NRAS(G12V) maintained leukemia self-renewal through mTOR and MEK pathway activation, implicating the... DisGeNET Detail
Injecting Mx1-Cre, LSL-Nras(G12D) mice with the MOL4070LTR retrovirus causes acute myeloid leukemia ... DisGeNET Detail
When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induced melanocyte prolif... DisGeNET Detail
Analysis of the gene-expression patterns of leukemic subpopulations revealed that the NRAS(G12V)-med... DisGeNET Detail
Inducible, Cre-mediated deletion of Hspa5, Prdm1, and Xbp1 consistently induces cellular stress and ... DisGeNET Detail
In a multiplexed analysis of RAS-dependent signaling, Mac-1(Low) cells, which harbor leukemia stem c... DisGeNET Detail
Using computational approaches to explore our gene-expression data sets, we found that NRAS(G12V) en... DisGeNET Detail
When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induced melanocyte prolif... DisGeNET Detail
When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induced melanocyte prolif... DisGeNET Detail
In a multiplexed analysis of RAS-dependent signaling, Mac-1(Low) cells, which harbor leukemia stem c... DisGeNET Detail
Analysis of the gene-expression patterns of leukemic subpopulations revealed that the NRAS(G12V)-med... DisGeNET Detail

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
rs121913237 dbSNP
Genome
hg38
Position
chr1:114,716,126-114,716,126
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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