View genomic variant #0000000067
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.115258747C>A |
Published as |
- |
GERP |
5.580 |
Segregation |
- |
DB-ID |
NRAS_000001 |
MSCV |
MSCV_0000067 |
dbSNP ID |
NA |
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 | RCV000037576; RCV000158986; RCV000421072; RCV000423890; RCV000432178; RCV000419124; RCV000429393; RCV000438750; RCV000438967; RCV000439421; RCV001377735; | Chromosome | 1:115258747..115258747 | ClinVar Allele ID | 48940 | 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|MedGen:C0153574|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|MedGen:C3661900|MONDO:MONDO:0021060, MedGen:C5555857, Orphanet:536391|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|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|MONDO:MONDO:0018881, MeSH:D009190, MedGen:C3463824, OMIM:614286, Orphanet:52688|MONDO:MONDO:0018997, MeSH:D009634, MedGen:C0028326, OMIM:PS163950, Orphanet:648|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779 | ClinVar preferred disease name | Melanoma|Gastric adenocarcinoma|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|not provided|RASopathy|Multiple myeloma|Acute myeloid leukemia|Myelodysplastic syndrome|Noonan syndrome|Malignant melanoma of skin | HGVS variant names | NC 000001.10:g.115258747C>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA261525 | Gene symbol:Gene id. | NRAS:4893 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 121913237 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000203450; RCV000380895; RCV000418647; RCV000426950; RCV000427550; RCV000434113; RCV000433455; RCV000425963; RCV000444591; RCV000437165; RCV000444670; RCV001324275; RCV001813426; | Chromosome | 1:115258747..115258747 | ClinVar Allele ID | 216786 | Disease database name and identifier | MONDO:MONDO:0020297, MedGen:C5681679, Orphanet:98733|Human Phenotype Ontology:HP:0030358, MONDO:MONDO:0005233, MeSH:D002289, MedGen:C0007131|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:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|MedGen:C3661900|MONDO:MONDO:0021060, MedGen:C5555857, Orphanet:536391|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779|MONDO:MONDO:0018881, MeSH:D009190, MedGen:C3463824, OMIM:614286, Orphanet:52688|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|MedGen:C0153574|Human Phenotype Ontology:HP:0033770, MONDO:MONDO:0005036, MedGen:C0278701|MedGen:CN234857 | ClinVar preferred disease name | Noonan syndrome and Noonan-related syndrome|Non-small cell lung carcinoma|Melanoma|Multiple myeloma|Neoplasm of the large intestine|not provided|RASopathy|Malignant melanoma of skin|Myelodysplastic syndrome|Acute myeloid leukemia|Malignant neoplasm of body of uterus|Gastric adenocarcinoma|Myelodysplastic syndrome progressed to acute myeloid leukemia | HGVS variant names | NC 000001.10:g.115258747C>G | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA280928 | Gene symbol:Gene id. | NRAS:4893 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 121913237 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000032849; RCV000144963; RCV000158980; RCV000417702; RCV000417869; RCV000430706; RCV000436228; RCV000439064; RCV000424239; RCV000440963; RCV000427949; RCV000434517; RCV001781333; RCV001813214; RCV001852659; RCV003415756; RCV003221788; | Chromosome | 1:115258747..115258747 | Allele frequencies from ESP | 0.00008 | Allele frequencies from ExAC | 0.00001 | ClinVar Allele ID | 48247 | Disease database name and identifier | MONDO:MONDO:0020297, MedGen:C5681679, Orphanet:98733|MedGen:C0153574|Human Phenotype Ontology:HP:0033770, MONDO:MONDO:0005036, MedGen:C0278701|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|MedGen:C3661900|MONDO:MONDO:0021060, MedGen:C5555857, Orphanet:536391|MONDO:MONDO:0018881, MeSH:D009190, MedGen:C3463824, OMIM:614286, Orphanet:52688|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779|Human Phenotype Ontology:HP:0010816, MONDO:MONDO:0008093, MedGen:C0334082, OMIM:162900, Orphanet:79414|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:0030358, MONDO:MONDO:0005233, MeSH:D002289, MedGen:C0007131|MONDO:MONDO:0013767, MedGen:C2674723, OMIM:614470, Orphanet:268114|MONDO:MONDO:0013186, MedGen:C2750732, OMIM:613224, Orphanet:648|Human Phenotype Ontology:HP:0012209, MONDO:MONDO:0011908, MedGen:C0349639, OMIM:607785, Orphanet:86834|.|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 | Noonan syndrome and Noonan-related syndrome|Malignant neoplasm of body of uterus|Gastric adenocarcinoma|Neoplasm of the large intestine|not provided|RASopathy|Myelodysplastic syndrome|Multiple myeloma|Malignant melanoma of skin|Epidermal nevus|Acute myeloid leukemia|Non-small cell lung carcinoma|Autoimmune lymphoproliferative syndrome type 4|Noonan syndrome 6|Juvenile myelomonocytic leukemia|NRAS-related condition|Melanoma | HGVS variant names | NC 000001.10:g.115258747C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA130425|OMIM:164790.0007|UniProtKB:P01111#VAR 071129 | Gene symbol:Gene id. | NRAS:4893 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 121913237 | 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
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