chr1:115258744:C>T Detail (hg19) (NRAS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:115,258,744-115,258,744 |
hg38 | chr1:114,716,123-114,716,123 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002524.4:c.38G>A | NP_002515.1:p.Gly13Asp |
Ensemble | ENST00000369535.5:c.38G>A | ENST00000369535.5:p.Gly13Asp |
Summary
MGeND
Clinical significance |
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Variant entry | 21 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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caecum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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sigmoid colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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Acute myeloblastic leukaemia |
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MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
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Myelodysplastic syndromes |
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MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
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other |
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MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | ||||
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other |
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MGS000073
(TMGS000167) |
Kenjiro Kosaki |
Keio University IRUD |
||||
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other |
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MGS000073
(TMGS000167) |
Kenjiro Kosaki |
Keio University IRUD |
||||
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caecum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2011-03-10 | no assertion criteria provided | juvenile myelomonocytic leukemia |
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Detail |
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2011-03-10 | no assertion criteria provided | Noonan syndrome 6 |
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Detail |
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2023-01-03 | criteria provided, single submitter | autoimmune lymphoproliferative syndrome type 4 |
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Detail |
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2015-03-30 | criteria provided, single submitter | not provided |
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Detail |
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2016-05-31 | no assertion criteria provided |
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Detail | |
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2016-05-31 | no assertion criteria provided | medulloblastoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
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Detail |
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2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
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Detail |
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2016-03-10 | no assertion criteria provided | melanoma |
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Detail |
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2016-05-31 | no assertion criteria provided | myelodysplastic syndrome |
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Detail |
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2016-05-31 | no assertion criteria provided | multiple myeloma |
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Detail |
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2016-05-31 | no assertion criteria provided | acute myeloid leukemia |
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Detail |
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2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
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Detail |
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2016-05-31 | no assertion criteria provided | non-Hodgkin lymphoma |
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Detail |
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2020-09-01 | criteria provided, single submitter | Acute megakaryoblastic leukemia in down syndrome |
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Detail |
CIViC
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.490 | juvenile myelomonocytic leukemia | NA | CLINVAR | Detail | |
0.360 | Noonan syndrome 6 | NA | CLINVAR | Detail | |
<0.001 | Monosomy | Genetic analyses revealed that both cell populations bore +21, while a G13D muta... | BeFree | 25228298 | Detail |
0.360 | RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER | NA | CLINVAR | Detail | |
0.001 | Hematologic Neoplasms | We show here that the salient features of ALPS as well as a predisposition to he... | BeFree | 17517660 | Detail |
<0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
<0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
<0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
<0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
<0.001 | mycosis fungoides | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Likely due to increased reliance of mutant NRAS on HSP90 for stabilization, inhibition of HSP90 by 1... | CIViC Evidence | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Juvenile myelomonocytic leukemia | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Noonan syndrome 6 | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Autoimmune lymphoproliferative syndrome type 4 | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND not provided | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Medulloblastoma | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Malignant melanoma of skin | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Melanoma | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Myelodysplastic syndrome | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Multiple myeloma | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Acute myeloid leukemia | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Non-Hodgkin lymphoma | ClinVar | Detail |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Acute megakaryoblastic leukemia in down syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Genetic analyses revealed that both cell populations bore +21, while a G13D mutation of the NRAS gen... | DisGeNET | Detail |
NA | DisGeNET | Detail |
We show here that the salient features of ALPS as well as a predisposition to hematological malignan... | DisGeNET | Detail |
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | 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
- rs121434596 dbSNP
- Genome
- hg19
- Position
- chr1:115,258,744-115,258,744
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121412
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.236418146476461E-6
- Variant (CIViC) (CIViC Variant)
- G13D
- Transcript 1 (CIViC Variant)
- ENST00000369535.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/93
- Summary (CIViC Variant)
- While the NRAS G12 region is a widely studied recurrent region in cancer, its impact on clinical action is still debated.
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