View genomic variant #0000000064
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.115256529T>C |
Published as |
- |
GERP |
5.080 |
Segregation |
- |
DB-ID |
NRAS_000005 |
MSCV |
MSCV_0000064 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000418220; RCV000418396; RCV000422640; RCV000423898; RCV000424084; RCV000426122; RCV000429082; RCV000428055; RCV000431333; RCV000433761; RCV000433349; RCV000436539; RCV000435412; RCV000435905; RCV000438738; RCV000441171; RCV000444188; RCV000444754; RCV000444899; RCV00252; | Chromosome | 1:115256529..115256529 | ClinVar Allele ID | 362753 | Disease database name and identifier | Human Phenotype Ontology:HP:0002861, Human Phenotype Ontology:HP:0002887, Human Phenotype Ontology:HP:0006777, Human Phenotype Ontology:HP:0007474, MONDO:MONDO:0005105, MeSH:D008545, MedGen:C0025202|MONDO:MONDO:0006046, MedGen:C0279663|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|MedGen:C0153574|Human Phenotype Ontology:HP:0100031, MONDO:MONDO:0015074, MeSH:D013964, MedGen:C0040136, Orphanet:100087|Human Phenotype Ontology:HP:0100630, MONDO:MONDO:0005375, MeSH:D009303, MedGen:C0027439|Human Phenotype Ontology:HP:0002889, Human Phenotype Ontology:HP:0006744, Human Phenotype Ontology:HP:0006759, MONDO:MONDO:0006639, MeSH:D018268, MedGen:C0206686, Orphanet:1501|Human Phenotype Ontology:HP:0030692, MONDO:MONDO:0021211, MeSH:D001932, MedGen:C0006118|MONDO:MONDO:0021060, MedGen:C5555857, Orphanet:536391|Human Phenotype Ontology:HP:0005550, Human Phenotype Ontology:HP:0006734, Human Phenotype Ontology:HP:0006760, MONDO:MONDO:0004948, MeSH:D015451, MedGen:C0023434, OMIM:151400, Orphanet:67038|Human Phenotype Ontology:HP:0001402, Human Phenotype Ontology:HP:0002899, Human Phenotype Ontology:HP:0003007, Human Phenotype Ontology:HP:0006750, MONDO:MONDO:0007256, MedGen:C2239176, OMIM:114550, Orphanet:88673|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|Human Phenotype Ontology:HP:0030358, MONDO:MONDO:0005233, MeSH:D002289, MedGen:C0007131|Human Phenotype Ontology:HP:0011797, MedGen:C1336839, OMIM:605074, Orphanet:47044|Human Phenotype Ontology:HP:0001914, Human Phenotype Ontology:HP:0004808, Human Phenotype Ontology:HP:0004843, Human Phenotype Ontology:HP:0005516, Human Phenotype Ontology:HP:0006724, Human Phenotype Ontology:HP:0006728, MONDO:MONDO:0018874, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:519|Human Phenotype Ontology:HP:0030078, MONDO:MONDO:0005061, MeSH:D000077192, MedGen:C0152013|Human Phenotype Ontology:HP:0006740, MONDO:MONDO:0005611, MedGen:C0279680|Human Phenotype Ontology:HP:0033770, MONDO:MONDO:0005036, MedGen:C0278701|MONDO:MONDO:0018177, MeSH:D005909, MedGen:C0017636, Orphanet:360 | ClinVar preferred disease name | Melanoma|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Malignant neoplasm of body of uterus|Thyroid tumor|Neoplasia of the nasopharynx|Adrenal cortex carcinoma|Neoplasm of brain|RASopathy|Chronic lymphatic leukemia|Hepatocellular carcinoma|Malignant melanoma of skin|Multiple myeloma|Non-small cell lung carcinoma|Papillary renal cell carcinoma type 1|Acute myeloid leukemia|Lung adenocarcinoma|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Glioblastoma | HGVS variant names | NC 000001.10:g.115256529T>A | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA16602361 | Gene symbol:Gene id. | NRAS:4893 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 11554290 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000014914; RCV000032847; RCV000037574; RCV000114744; RCV000114745; RCV000148032; RCV000413804; RCV000422078; RCV000422278; RCV000430407; RCV000430593; RCV000435687; RCV000420832; RCV000438052; RCV000419710; RCV000440367; RCV000424960; RCV000424455; RCV000424721; RCV00044; | Chromosome | 1:115256529..115256529 | ClinVar Allele ID | 28939 | Disease database name and identifier | Human Phenotype Ontology:HP:0002861, Human Phenotype Ontology:HP:0002887, Human Phenotype Ontology:HP:0006777, Human Phenotype Ontology:HP:0007474, MONDO:MONDO:0005105, MeSH:D008545, MedGen:C0025202|Human Phenotype Ontology:HP:0033770, MONDO:MONDO:0005036, MedGen:C0278701|Human Phenotype Ontology:HP:0002889, Human Phenotype Ontology:HP:0006744, Human Phenotype Ontology:HP:0006759, MONDO:MONDO:0006639, MeSH:D018268, MedGen:C0206686, Orphanet:1501|MedGen:C0153574|Human Phenotype Ontology:HP:0100630, MONDO:MONDO:0005375, MeSH:D009303, MedGen:C0027439|MONDO:MONDO:0006046, MedGen:C0279663|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|Human Phenotype Ontology:HP:0005600, Human Phenotype Ontology:HP:0005604, MONDO:MONDO:0044792, MedGen:C1842036, OMIM:137550, Orphanet:626|Human Phenotype Ontology:HP:0030692, MONDO:MONDO:0021211, MeSH:D001932, MedGen:C0006118|MONDO:MONDO:0009578, MedGen:C0544862, OMIM:249400, Orphanet:2481|MONDO:MONDO:0018177, MeSH:D005909, MedGen:C0017636, Orphanet:360|MedGen:C3661900|Human Phenotype Ontology:HP:0005550, Human Phenotype Ontology:HP:0006734, Human Phenotype Ontology:HP:0006760, MONDO:MONDO:0004948, MeSH:D015451, MedGen:C0023434, OMIM:151400, Orphanet:67038|Human Phenotype Ontology:HP:0010817, MONDO:MONDO:0008097, MedGen:C4552097, OMIM:163200, Orphanet:2612|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779|Human Phenotype Ontology:HP:0001914, Human Phenotype Ontology:HP:0004808, Human Phenotype Ontology:HP:0004843, Human Phenotype Ontology:HP:0005516, Human Phenotype Ontology:HP:0006724, Human Phenotype Ontology:HP:0006728, MONDO:MONDO:0018874, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:519|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|Human Phenotype Ontology:HP:0001402, Human Phenotype Ontology:HP:0002899, Human Phenotype Ontology:HP:0003007, Human Phenotype Ontology:HP:0006750, MONDO:MONDO:0007256, MedGen:C2239176, OMIM:114550, Orphanet:88673|Human Phenotype Ontology:HP:0010816, MONDO:MONDO:0008093, MedGen:C0334082, OMIM:162900, Orphanet:79414|Human Phenotype Ontology:HP:0030358, MONDO:MONDO:0005233, MeSH:D002289, MedGen:C0007131|Human Phenotype Ontology:HP:0011797, MedGen:C1336839, OMIM:605074, Orphanet:47044|Human Phenotype Ontology:HP:0030078, MONDO:MONDO:0005061, MeSH:D000077192, MedGen:C0152013|MONDO:MONDO:0008566, MedGen:C4225426, OMIM:188470|Human Phenotype Ontology:HP:0006740, MONDO:MONDO:0005611, MedGen:C0279680 | ClinVar preferred disease name | Melanoma|Gastric adenocarcinoma|Adrenal cortex carcinoma|Malignant neoplasm of body of uterus|Neoplasia of the nasopharynx|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Large congenital melanocytic nevus|Neoplasm of brain|Neurocutaneous melanocytosis|Glioblastoma|not provided|Chronic lymphatic leukemia|Linear nevus sebaceous syndrome|Malignant melanoma of skin|Acute myeloid leukemia|Multiple myeloma|Hepatocellular carcinoma|Epidermal nevus|Non-small cell lung carcinoma|Papillary renal cell carcinoma type 1|Lung adenocarcinoma|Thyroid cancer, nonmedullary, 2|Transitional cell carcinoma of the bladder | HGVS variant names | NC 000001.10:g.115256529T>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA123618|OMIM:164790.0002|UniProtKB:P01111#VAR 006847 | Gene symbol:Gene id. | NRAS:4893 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 11554290 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000291285; RCV000421496; RCV000427746; RCV000431592; RCV000444660; RCV000419053; RCV000419201; RCV000421291; RCV000420302; RCV000434604; RCV000437312; RCV000438468; RCV000444278; RCV000426654; RCV000428903; RCV000430000; RCV000432170; RCV000437545; RCV000439526; RCV00043; | Chromosome | 1:115256529..115256529 | ClinVar Allele ID | 263939 | Disease database name and identifier | MONDO:MONDO:0006046, MedGen:C0279663|Human Phenotype Ontology:HP:0100630, MONDO:MONDO:0005375, MeSH:D009303, MedGen:C0027439|Human Phenotype Ontology:HP:0100031, MONDO:MONDO:0015074, MeSH:D013964, MedGen:C0040136, Orphanet:100087|MedGen:C0153574|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|Human Phenotype Ontology:HP:0030692, MONDO:MONDO:0021211, MeSH:D001932, MedGen:C0006118|Human Phenotype Ontology:HP:0030078, MONDO:MONDO:0005061, MeSH:D000077192, MedGen:C0152013|MedGen:C3661900|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|Human Phenotype Ontology:HP:0001402, Human Phenotype Ontology:HP:0002899, Human Phenotype Ontology:HP:0003007, Human Phenotype Ontology:HP:0006750, MONDO:MONDO:0007256, MedGen:C2239176, OMIM:114550, Orphanet:88673|Human Phenotype Ontology:HP:0006740, MONDO:MONDO:0005611, MedGen:C0279680|Human Phenotype Ontology:HP:0002889, Human Phenotype Ontology:HP:0006744, Human Phenotype Ontology:HP:0006759, MONDO:MONDO:0006639, MeSH:D018268, MedGen:C0206686, Orphanet:1501|Human Phenotype Ontology:HP:0033770, MONDO:MONDO:0005036, MedGen:C0278701|Human Phenotype Ontology:HP:0011797, MedGen:C1336839, OMIM:605074, Orphanet:47044|MONDO:MONDO:0013186, MedGen:C2750732, OMIM:613224, Orphanet:648|Human Phenotype Ontology:HP:0002861, Human Phenotype Ontology:HP:0002887, Human Phenotype Ontology:HP:0006777, Human Phenotype Ontology:HP:0007474, MONDO:MONDO:0005105, MeSH:D008545, MedGen:C0025202|MONDO:MONDO:0018177, MeSH:D005909, MedGen:C0017636, Orphanet:360|Human Phenotype Ontology:HP:0005550, Human Phenotype Ontology:HP:0006734, Human Phenotype Ontology:HP:0006760, MONDO:MONDO:0004948, MeSH:D015451, MedGen:C0023434, OMIM:151400, Orphanet:67038|Human Phenotype Ontology:HP:0001914, Human Phenotype Ontology:HP:0004808, Human Phenotype Ontology:HP:0004843, Human Phenotype Ontology:HP:0005516, Human Phenotype Ontology:HP:0006724, Human Phenotype Ontology:HP:0006728, MONDO:MONDO:0018874, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:519|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779|Human Phenotype Ontology:HP:0030358, MONDO:MONDO:0005233, MeSH:D002289, MedGen:C0007131 | ClinVar preferred disease name | Ovarian serous cystadenocarcinoma|Neoplasia of the nasopharynx|Thyroid tumor|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Neoplasm of brain|Lung adenocarcinoma|not provided|Multiple myeloma|Hepatocellular carcinoma|Transitional cell carcinoma of the bladder|Adrenal cortex carcinoma|Gastric adenocarcinoma|Papillary renal cell carcinoma type 1|Noonan syndrome 6|Melanoma|Glioblastoma|Chronic lymphatic leukemia|Acute myeloid leukemia|Malignant melanoma of skin|Non-small cell lung carcinoma | HGVS variant names | NC 000001.10:g.115256529T>G | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA10602732 | Gene symbol:Gene id. | NRAS:4893 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 11554290 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000426087; | Chromosome | 1:115256529..115256530 | ClinVar Allele ID | 363099 | Disease database name and identifier | Human Phenotype Ontology:HP:0002861, Human Phenotype Ontology:HP:0002887, Human Phenotype Ontology:HP:0006777, Human Phenotype Ontology:HP:0007474, MONDO:MONDO:0005105, MeSH:D008545, MedGen:C0025202 | ClinVar preferred disease name | Melanoma | HGVS variant names | NC 000001.10:g.115256529 115256530delinsCT | ClinVar review status | no assertion criteria provided | Clinical Significance | Likely pathogenic | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Variant clinical sources reported | ClinGen:CA16602673 | Gene symbol:Gene id. | NRAS:4893 | Molecular consequence | SO:0001583|missense variant | Allele origin | somatic | dbSNP ID | 1057519834 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
None Ensembl Variant Phenotype Information:
None
|