chr1:115258745:C>G Detail (hg19) (NRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:115,258,745-115,258,745 |
| hg38 | chr1:114,716,124-114,716,124 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002524.4:c.37G>C | NP_002515.1:p.Gly13Arg |
| Ensemble | ENST00000369535.5:c.37G>C | ENST00000369535.5:p.Gly13Arg |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 7 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
colon, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
Acute myeloblastic leukaemia |
somatic
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
|
not provided
|
Myelodysplastic syndromes |
somatic
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
|
not provided
|
extrahepatic bile duct |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2009-01-01 | no assertion criteria provided | Carcinoma of colon |
somatic
|
Detail |
|
Pathogenic
|
2009-01-01 | no assertion criteria provided | large congenital melanocytic nevus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | medulloblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Pathogenic
|
2015-07-14 | 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 | myelodysplastic syndrome |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | non-Hodgkin lymphoma |
somatic
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-06-08 | no assertion criteria provided | acute myeloid leukemia |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2019-07-08 | criteria provided, single submitter | Noonan syndrome 6 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | GIANT PIGMENTED HAIRY NEVUS | NA | CLINVAR | Detail | |
| 0.121 | colon carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) AND Carcinoma of colon | ClinVar | Detail |
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) AND Large congenital melanocytic nevus | ClinVar | Detail |
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) AND Medulloblastoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) AND Melanoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) AND Multiple myeloma | ClinVar | Detail |
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) AND Myelodysplastic syndrome | ClinVar | Detail |
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) AND Non-Hodgkin lymphoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) AND Noonan syndrome 6 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs121434595 dbSNP
- Genome
- hg19
- Position
- chr1:115,258,745-115,258,745
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- G13R
- Transcript 1 (CIViC Variant)
- ENST00000369535.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/896
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