chr1:115256528:T>A Detail (hg19) (NRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:115,256,528-115,256,528 |
| hg38 | chr1:114,713,907-114,713,907 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002524.4:c.183A>T | NP_002515.1:p.Gln61His |
| Ensemble | ENST00000369535.5:c.183A>T | ENST00000369535.5:p.Gln61His |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 10 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
caecum |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
descending colon |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ascending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
Myelodysplastic syndromes |
somatic
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
|
Pathogenic
|
Endometrial carcinoma (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
lung cancer |
somatic
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
|
not provided
|
caecum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
descending colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
colon, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2016-07-30 | criteria provided, single submitter | not provided |
germline
|
Detail |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
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 | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Thyroid tumor |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Nasopharyngeal neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Adrenal cortex carcinoma |
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 | ovarian serous cystadenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | B-cell chronic lymphocytic leukemia |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Pathogenic
|
2015-07-14 | no assertion criteria provided | melanoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma type 1 |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of brain |
somatic
|
Detail |
Uncertain significance
|
2016-12-12 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | papilloma | The 10 papillary carcinomas showed an overall lower frequency of mutations, incl... | BeFree | 19898424 | Detail |
| <0.001 | papilloma | The 10 papillary carcinomas showed an overall lower frequency of mutations, incl... | BeFree | 19898424 | Detail |
| 0.120 | B-Cell Lymphomas | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| <0.001 | diffuse large B-cell lymphoma | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| <0.001 | diffuse large B-cell lymphoma | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| 0.001 | B-Cell Lymphomas | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND not provided | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Glioblastoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Thyroid tumor | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Nasopharyngeal neoplasm | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Multiple myeloma | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Adrenal cortex carcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND B-cell chronic lymphocytic leukemia | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Melanoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Neoplasm of brain | ClinVar | Detail |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
| The 10 papillary carcinomas showed an overall lower frequency of mutations, including 1 with an AKT1... | DisGeNET | Detail |
| The 10 papillary carcinomas showed an overall lower frequency of mutations, including 1 with an AKT1... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | 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
- rs121913255 dbSNP
- Genome
- hg19
- Position
- chr1:115,256,528-115,256,528
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
Genome browser