chr1:114713908:T>G Detail (hg38) (NRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:115,256,529-115,256,529 View the variant detail on this assembly version. |
| hg38 | chr1:114,713,908-114,713,908 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002524.4:c.182A>C | NP_002515.1:p.Gln61Pro |
| Ensemble | ENST00000369535.5:c.182A>C | ENST00000369535.5:p.Gln61Pro |
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
|
2016-03-22 | criteria provided, single submitter | not provided |
germline
|
Detail |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Adrenal cortex carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
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 | gastric adenocarcinoma |
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 | Nasopharyngeal neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2014-10-02 | no assertion criteria provided | Non-small cell lung carcinoma |
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 | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of brain |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
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 | ovarian serous cystadenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung 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 | Papillary renal cell carcinoma type 1 |
somatic
|
Detail |
|
Likely pathogenic
|
2021-09-30 | no assertion criteria provided | Noonan syndrome 6 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.004 | Metastatic melanoma | Immunohistochemistry as a potential tool for routine detection of the NRAS Q61R ... | BeFree | 25659223 | Detail |
| <0.001 | differentiated thyroid gland carcinoma | BRAF mutation was present in 65% of 94 DTC and p.Q61R NRAS in one. | BeFree | 24468978 | Detail |
| 0.121 | Follicular thyroid carcinoma | NRAS mutation was observed in follicular carcinoma (50%) and in anaplastic carci... | BeFree | 16555627 | Detail |
| 0.240 | Neurocutaneous melanosis | Genotypic and gene expression studies in congenital melanocytic nevi: insight in... | UNIPROT | 18633438 | Detail |
| 0.009 | Neoplasm Metastasis | Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 n... | BeFree | 14695143 | Detail |
| <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 | Undifferentiated carcinoma | NRAS mutation was observed in follicular carcinoma (50%) and in anaplastic carci... | BeFree | 16555627 | Detail |
| 0.360 | melanoma | These senescence phenotypes were p16(INK4A)- or p53-independent, however, severa... | BeFree | 18679422 | Detail |
| 0.002 | Neoplasm Metastasis | Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 ... | BeFree | 15737846 | Detail |
| 0.240 | NEVUS, EPIDERMAL (disorder) | Genotypic and gene expression studies in congenital melanocytic nevi: insight in... | UNIPROT | 18633438 | Detail |
| 0.360 | GIANT PIGMENTED HAIRY NEVUS | Genotypic and gene expression studies in congenital melanocytic nevi: insight in... | UNIPROT | 18633438 | Detail |
| 0.121 | Follicular thyroid carcinoma | NA | CLINVAR | Detail | |
| 0.236 | melanoma | We have evaluated five real-time ARMS assays: BRAF 1799T>A, [this includes V6... | BeFree | 20925915 | Detail |
| <0.001 | chronic lymphocytic leukemia | Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic... | BeFree | 9139869 | Detail |
| 0.009 | Neoplasm Metastasis | Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 ... | BeFree | 15737846 | Detail |
| 0.002 | Neoplasm Metastasis | Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 n... | BeFree | 14695143 | Detail |
| 0.240 | Neurocutaneous melanosis | NA | CLINVAR | Detail | |
| 0.121 | Non-small cell lung carcinoma | NA | CLINVAR | Detail | |
| 0.360 | GIANT PIGMENTED HAIRY NEVUS | NA | CLINVAR | Detail | |
| 0.007 | Carcinoma, Papillary | NRAS mutation was observed in six cases (6%), all in histological types other th... | BeFree | 14508525 | Detail |
| 0.240 | NEVUS, EPIDERMAL (disorder) | NA | CLINVAR | Detail | |
| 0.006 | Cutaneous Melanoma | We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations an... | BeFree | 25048604 | Detail |
| 0.004 | Metastatic melanoma | To evaluate the latter possibility, a mutated NRAS(Q61R) oncogene was expressed,... | BeFree | 16818621 | Detail |
| 0.049 | Metastatic melanoma | To evaluate the latter possibility, a mutated NRAS(Q61R) oncogene was expressed,... | BeFree | 16818621 | Detail |
| 0.236 | melanoma | We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations an... | BeFree | 25048604 | Detail |
| 0.431 | melanoma | Besides confirming the presence of known melanoma driver mutations (BRAF(V600E),... | BeFree | 23704925 | Detail |
| 0.236 | melanoma | Our data suggest that one of the major functions of C-MYC overexpression in mela... | BeFree | 18679422 | Detail |
| <0.001 | Invasive Skin Melanoma | Somatic BRAF(V600E) and NRAS(Q61R) mutations of 127 primary invasive melanomas f... | BeFree | 25048604 | Detail |
| <0.001 | Invasive Skin Melanoma | Somatic BRAF(V600E) and NRAS(Q61R) mutations of 127 primary invasive melanomas f... | BeFree | 25048604 | Detail |
| 0.236 | melanoma | Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48%... | BeFree | 23855428 | Detail |
| 0.236 | melanoma | Besides confirming the presence of known melanoma driver mutations (BRAF(V600E),... | BeFree | 23704925 | Detail |
| 0.431 | melanoma | Our data suggest that one of the major functions of C-MYC overexpression in mela... | BeFree | 18679422 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND not provided | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Adrenal cortex carcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Multiple myeloma | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND B-cell chronic lymphocytic leukemia | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Nasopharyngeal neoplasm | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Melanoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Glioblastoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Neoplasm of brain | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Thyroid tumor | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Noonan syndrome 6 | ClinVar | Detail |
| Immunohistochemistry as a potential tool for routine detection of the NRAS Q61R mutation in patients... | DisGeNET | Detail |
| BRAF mutation was present in 65% of 94 DTC and p.Q61R NRAS in one. | DisGeNET | Detail |
| NRAS mutation was observed in follicular carcinoma (50%) and in anaplastic carcinoma (28%), and was ... | DisGeNET | Detail |
| Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of ... | DisGeNET | Detail |
| Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and... | DisGeNET | Detail |
| Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) ha... | DisGeNET | Detail |
| NRAS mutation was observed in follicular carcinoma (50%) and in anaplastic carcinoma (28%), and was ... | DisGeNET | Detail |
| These senescence phenotypes were p16(INK4A)- or p53-independent, however, several of them were suppr... | DisGeNET | Detail |
| Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, an... | DisGeNET | Detail |
| Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of ... | DisGeNET | Detail |
| Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We have evaluated five real-time ARMS assays: BRAF 1799T>A, [this includes V600E and V600K] and N... | DisGeNET | Detail |
| Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) ha... | DisGeNET | Detail |
| Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, an... | DisGeNET | Detail |
| Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NRAS mutation was observed in six cases (6%), all in histological types other than papillary carcino... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations and known risk factors... | DisGeNET | Detail |
| To evaluate the latter possibility, a mutated NRAS(Q61R) oncogene was expressed, under a constitutiv... | DisGeNET | Detail |
| To evaluate the latter possibility, a mutated NRAS(Q61R) oncogene was expressed, under a constitutiv... | DisGeNET | Detail |
| We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations and known risk factors... | DisGeNET | Detail |
| Besides confirming the presence of known melanoma driver mutations (BRAF(V600E), NRAS(Q61R) ), we id... | DisGeNET | Detail |
| Our data suggest that one of the major functions of C-MYC overexpression in melanoma progression is ... | DisGeNET | Detail |
| Somatic BRAF(V600E) and NRAS(Q61R) mutations of 127 primary invasive melanomas from the NHS cohort w... | DisGeNET | Detail |
| Somatic BRAF(V600E) and NRAS(Q61R) mutations of 127 primary invasive melanomas from the NHS cohort w... | DisGeNET | Detail |
| Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48% Q61K, 40% Q61R) of ... | DisGeNET | Detail |
| Besides confirming the presence of known melanoma driver mutations (BRAF(V600E), NRAS(Q61R) ), we id... | DisGeNET | Detail |
| Our data suggest that one of the major functions of C-MYC overexpression in melanoma progression is ... | 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
- rs11554290 dbSNP
- Genome
- hg38
- Position
- chr1:114,713,908-114,713,908
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
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