chr1:114716127:C>G Detail (hg38) (NRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:115,258,748-115,258,748 View the variant detail on this assembly version. |
| hg38 | chr1:114,716,127-114,716,127 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002524.4:c.34G>C | NP_002515.1:p.Gly12Arg |
| Ensemble | ENST00000369535.5:c.34G>C | ENST00000369535.5:p.Gly12Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2015-06-02 | criteria provided, single submitter | not provided |
germline
|
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 |
|
Pathogenic
|
2014-10-02 | no assertion criteria provided | Non-small cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | chronic myelogenous leukemia, BCR-ABL1 positive |
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 | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | myelodysplastic syndrome |
somatic
|
Detail |
|
Pathogenic
|
2014-10-02 | no assertion criteria provided | melanoma |
somatic
|
Detail |
|
Pathogenic
|
criteria provided, single submitter |
de novo
|
Detail | ||
|
Pathogenic
|
2022-06-22 | criteria provided, multiple submitters, no conflicts | Noonan syndrome 6 |
de novo
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 |
| 0.490 | juvenile myelomonocytic leukemia | NA | CLINVAR | Detail | |
| 0.360 | Noonan syndrome 6 | NA | CLINVAR | Detail | |
| 0.236 | melanoma | Direct sequencing of the melanoma revealed a rarely described NRAS mutation c.34... | BeFree | 24335517 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND not provided | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Multiple myeloma | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Chronic myelogenous leukemia, BCR-ABL1 positive | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Myelodysplastic syndrome | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Melanoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Increased nuchal translucency | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Noonan syndrome 6 | 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 |
| Direct sequencing of the melanoma revealed a rarely described NRAS mutation c.34G>T (G12C). | 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
- rs121913250 dbSNP
- Genome
- hg38
- Position
- chr1:114,716,127-114,716,127
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
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