View genomic variant #0000000065

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>G
Published as -
GERP 5.080
Segregation -
DB-ID NRAS_000006
MSCV MSCV_0000065
dbSNP ID NA
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
NRAS 00003322 NM_002524.4 0000000065 ./. c.182A>C p.(Gln61Pro) missense_variant - 3/7 possibly_damaging(0.713) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000424084; RCV000444899; RCV000444188; RCV000433761; RCV000418396; RCV000436539; RCV000422640; RCV000423898; RCV000433349; RCV000435905; RCV000418220; RCV000428055; RCV000444754; RCV000441171; RCV000431333; RCV000435412; RCV000429082; RCV000426122; RCV000438738;
Chromosome 1:115256529..115256529
ClinVar Allele ID 362753
Disease database name and identifier Human Phenotype Ontology:HP:0004808, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:ORPHA519, SNOMED CT:17788007|Human Phenotype Ontology:HP:0005550, MeSH:D015451, MedGen:C0023434, OMIM:151400, SNOMED CT:277473004, SNOMED CT:51092000|Human Phenotype Ontology:HP:0005584, MeSH:D002292, MedGen:C0007134, OMIM:605074, Orphanet:ORPHA217071, SNOMED CT:41607009|Human Phenotype Ontology:HP:0006740, MedGen:C0279680|Human Phenotype Ontology:HP:0006744, MeSH:D018268, MedGen:C0206686, Orphanet:ORPHA1501|Human Phenotype Ontology:HP:0006775, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:ORPHA29073, SNOMED CT:109989006, SNOMED CT:55921005|Human Phenotype Ontology:HP:0012056, MeSH:D008545, MedGen:C0025202|Human Phenotype Ontology:HP:0030078, MeSH:C538231, MedGen:C0152013|Human Phenotype Ontology:HP:0030358, MeSH:D002289, MedGen:C0007131, SNOMED CT:254637007|Human Phenotype Ontology:HP:0030692, MeSH:D001932, MedGen:C0006118, SNOMED CT:126952004|Human Phenotype Ontology:HP:0100031, MeSH:D013964, MedGen:C0040136, Orphanet:ORPHA100087|Human Phenotype Ontology:HP:0100843, MeSH:D005909, MedGen:C0017636, SNOMED CT:63634009|MeSH:C562393, MedGen:C0151779, SNOMED CT:93655004|MeSH:D009303, MedGen:C0027439|MeSH:D015179, MedGen:CN236642|MedGen:C0153574, Orphanet:ORPHA213569|MedGen:C0278701|MedGen:C0279663|MedGen:C2239176, OMIM:114550, Orphanet:ORPHA88673, SNOMED CT:187769009, SNOMED CT:25370001
ClinVar preferred disease name Acute myeloid leukemia|Chronic lymphocytic leukemia|Renal cell carcinoma, papillary, 1|Transitional cell carcinoma of the bladder|Adrenocortical carcinoma|Multiple myeloma|Cutaneous melanoma|Lung adenocarcinoma|Non-small cell lung cancer|Neoplasm of brain|Neoplasm of the thyroid gland|Glioblastoma|Malignant melanoma of skin|Nasopharyngeal Neoplasms|Colorectal Neoplasms|Malignant neoplasm of body of uterus|Adenocarcinoma of stomach|Ovarian Serous Cystadenocarcinoma|Hepatocellular carcinoma
HGVS variant names NC 000001.10:g.115256529T>A
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic/Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. NRAS:4893
Molecular consequence SO:0001583|missense variant
Allele origin somatic
dbSNP ID 11554290
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000441317; RCV000439264; RCV000422078; RCV000420832; RCV000435687; RCV000114744; RCV000424960; RCV000032847; RCV000148032; RCV000014914; RCV000438052; RCV000432961; RCV000424721; RCV000430407; RCV000445249; RCV000431883; RCV000430593; RCV000424455; RCV000114745; RCV00003;
Chromosome 1:115256529..115256529
ClinVar Allele ID 28939
Disease database name and identifier Human Phenotype Ontology:HP:0004808, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:ORPHA519, SNOMED CT:17788007|Human Phenotype Ontology:HP:0005550, MeSH:D015451, MedGen:C0023434, OMIM:151400, SNOMED CT:277473004, SNOMED CT:51092000|Human Phenotype Ontology:HP:0005584, MeSH:D002292, MedGen:C0007134, OMIM:605074, Orphanet:ORPHA217071, SNOMED CT:41607009|Human Phenotype Ontology:HP:0005600, MedGen:C1842036, OMIM:137550, Orphanet:ORPHA626|Human Phenotype Ontology:HP:0006731, MedGen:C0206682, OMIM:188470|Human Phenotype Ontology:HP:0006740, MedGen:C0279680|Human Phenotype Ontology:HP:0006744, MeSH:D018268, MedGen:C0206686, Orphanet:ORPHA1501|Human Phenotype Ontology:HP:0006775, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:ORPHA29073, SNOMED CT:109989006, SNOMED CT:55921005|Human Phenotype Ontology:HP:0010816, MedGen:C0334082, OMIM:162900, Orphanet:ORPHA35125, SNOMED CT:25201003|Human Phenotype Ontology:HP:0012056, MeSH:D008545, MedGen:C0025202|Human Phenotype Ontology:HP:0030078, MeSH:C538231, MedGen:C0152013|Human Phenotype Ontology:HP:0030358, MeSH:D002289, MedGen:C0007131, SNOMED CT:254637007|Human Phenotype Ontology:HP:0030692, MeSH:D001932, MedGen:C0006118, SNOMED CT:126952004|Human Phenotype Ontology:HP:0100843, MeSH:D005909, MedGen:C0017636, SNOMED CT:63634009|MeSH:C562393, MedGen:C0151779, SNOMED CT:93655004|MeSH:D009303, MedGen:C0027439|MeSH:D015179, MedGen:CN236642|MedGen:C0153574, Orphanet:ORPHA213569|MedGen:C0265318, OMIM:163200, SNOMED CT:239112008|MedGen:C0278701|MedGen:C0279663|MedGen:C0544862, OMIM:249400, Orphanet:ORPHA2481|MedGen:C2239176, OMIM:114550, Orphanet:ORPHA88673, SNOMED CT:187769009, SNOMED CT:25370001|MedGen:CN517202
ClinVar preferred disease name Acute myeloid leukemia|Chronic lymphocytic leukemia|Renal cell carcinoma, papillary, 1|Congenital giant melanocytic nevus|Follicular thyroid carcinoma|Transitional cell carcinoma of the bladder|Adrenocortical carcinoma|Multiple myeloma|Epidermal nevus|Cutaneous melanoma|Lung adenocarcinoma|Non-small cell lung cancer|Neoplasm of brain|Glioblastoma|Malignant melanoma of skin|Nasopharyngeal Neoplasms|Colorectal Neoplasms|Malignant neoplasm of body of uterus|Epidermal nevus syndrome|Adenocarcinoma of stomach|Ovarian Serous Cystadenocarcinoma|Neurocutaneous melanosis|Hepatocellular carcinoma|not provided
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 OMIM Allelic Variant:164790.0002|UniProtKB (protein):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 RCV000444278; RCV000421291; RCV000419053; RCV000420302; RCV000430000; RCV000431592; RCV000432170; RCV000437545; RCV000439765; RCV000427746; RCV000421496; RCV000419201; RCV000426654; RCV000434604; RCV000438468; RCV000428903; RCV000439526; RCV000444660; RCV000437312; RCV00029;
Chromosome 1:115256529..115256529
ClinVar Allele ID 263939
Disease database name and identifier Human Phenotype Ontology:HP:0004808, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:ORPHA519, SNOMED CT:17788007|Human Phenotype Ontology:HP:0005550, MeSH:D015451, MedGen:C0023434, OMIM:151400, SNOMED CT:277473004, SNOMED CT:51092000|Human Phenotype Ontology:HP:0005584, MeSH:D002292, MedGen:C0007134, OMIM:605074, Orphanet:ORPHA217071, SNOMED CT:41607009|Human Phenotype Ontology:HP:0006740, MedGen:C0279680|Human Phenotype Ontology:HP:0006744, MeSH:D018268, MedGen:C0206686, Orphanet:ORPHA1501|Human Phenotype Ontology:HP:0006775, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:ORPHA29073, SNOMED CT:109989006, SNOMED CT:55921005|Human Phenotype Ontology:HP:0012056, MeSH:D008545, MedGen:C0025202|Human Phenotype Ontology:HP:0030078, MeSH:C538231, MedGen:C0152013|Human Phenotype Ontology:HP:0030358, MeSH:D002289, MedGen:C0007131, SNOMED CT:254637007|Human Phenotype Ontology:HP:0030692, MeSH:D001932, MedGen:C0006118, SNOMED CT:126952004|Human Phenotype Ontology:HP:0100031, MeSH:D013964, MedGen:C0040136, Orphanet:ORPHA100087|Human Phenotype Ontology:HP:0100843, MeSH:D005909, MedGen:C0017636, SNOMED CT:63634009|MeSH:C562393, MedGen:C0151779, SNOMED CT:93655004|MeSH:D009303, MedGen:C0027439|MeSH:D015179, MedGen:CN236642|MedGen:C0153574, Orphanet:ORPHA213569|MedGen:C0278701|MedGen:C0279663|MedGen:C2239176, OMIM:114550, Orphanet:ORPHA88673, SNOMED CT:187769009, SNOMED CT:25370001|MedGen:CN517202
ClinVar preferred disease name Acute myeloid leukemia|Chronic lymphocytic leukemia|Renal cell carcinoma, papillary, 1|Transitional cell carcinoma of the bladder|Adrenocortical carcinoma|Multiple myeloma|Cutaneous melanoma|Lung adenocarcinoma|Non-small cell lung cancer|Neoplasm of brain|Neoplasm of the thyroid gland|Glioblastoma|Malignant melanoma of skin|Nasopharyngeal Neoplasms|Colorectal Neoplasms|Malignant neoplasm of body of uterus|Adenocarcinoma of stomach|Ovarian Serous Cystadenocarcinoma|Hepatocellular carcinoma|not provided
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
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:0012056, MeSH:D008545, MedGen:C0025202
ClinVar preferred disease name Cutaneous melanoma
HGVS variant names NC 000001.10:g.115256529 115256530delTGinsCT
ClinVar review status no assertion criteria provided
Clinical Significance Likely pathogenic
Variant type Indel
Sequence Ontology for variant type SO:1000032
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:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs115542901115256529115256529T/G/A/COMIM phenotype variantsTHYROID CARCINOMA, FOLLICULAR, SOMATIC
rs115542901115256529115256529T/G/A/COMIM phenotype variantsLung carcinoma cell
rs115542901115256529115256529T/G/A/COMIM phenotype variantsNevus, epidermal, somatic
rs115542901115256529115256529T/G/A/COMIM phenotype variantsNon-small cell lung cancer