View genomic variant #0000000064

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.115256529T>C
Published as -
GERP 5.080
Segregation -
DB-ID NRAS_000005
dbSNP ID -
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
NRAS NM_002524.4 ?/? c.182A>G p.(Gln61Arg) missense_variant - 3/7 benign(0.006) r.(?) deleterious(0.03)


ClinVar @ MSeqDR

362753
Human Phenotype Ontology:HP:0006740,MedGen:C0279680|MeSH:C538231,MedGen:C0152013|MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004|MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004|MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007|MeSH:D002292,MedGen:CN182935|MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009|MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003|MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005|MeSH:D009303,MedGen:C0027439|MeSH:D013964,MedGen:C0040136|MeSH:D015179,MedGen:CN236642|MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000|MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007|MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501|MedGen:C0153574|MedGen:C0278701|MedGen:C0279663|MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001
Transitional cell carcinoma of the bladder|Adenocarcinoma of lung|Malignant melanoma of skin|Neoplasm of brain|Non-small cell lung cancer|Renal cell carcinoma|Glioblastoma|Malignant melanoma|Multiple myeloma|Nasopharyngeal Neoplasms|Neoplasm of the thyroid gland|Colorectal Neoplasms|Chronic lymphocytic leukemia|Acute myeloid leukemia|Adrenocortical carcinoma|Malignant neoplasm of body of uterus|Adenocarcinoma of stomach|Ovarian Serous Cystadenocarcinoma|Hepatocellular carcinoma
HGVS variant names NC 000001.10:g.115256529T>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. NRAS:4893
SO:0001583|missense variant
2
dbSNP ID 11554290
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

28939
Human Phenotype Ontology:HP:0006740,MedGen:C0279680|MeSH:C538231,MedGen:C0152013|MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004|MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004|MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007|MeSH:D002292,MedGen:CN182935|MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009|MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003|MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005|MeSH:D009303,MedGen:C0027439|MeSH:D015179,MedGen:CN236642|MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000|MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007|MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501|MedGen:C0153574|MedGen:C0206682,OMIM:188470|MedGen:C0265318,OMIM:163200,SNOMED CT:239112008|MedGen:C0278701|MedGen:C0279663|MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003|MedGen:C0544862,OMIM:249400,Orphanet:ORPHA2481|MedGen:C1842036,OMIM:137550,Orphanet:ORPHA626|MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001|MedGen:CN517202
Transitional cell carcinoma of the bladder|Adenocarcinoma of lung|Malignant melanoma of skin|Neoplasm of brain|Non-small cell lung cancer|Renal cell carcinoma|Glioblastoma|Malignant melanoma|Multiple myeloma|Nasopharyngeal Neoplasms|Colorectal Neoplasms|Chronic lymphocytic leukemia|Acute myeloid leukemia|Adrenocortical carcinoma|Malignant neoplasm of body of uterus|Thyroid cancer, follicular|Epidermal nevus syndrome|Adenocarcinoma of stomach|Ovarian Serous Cystadenocarcinoma|Epidermal nevus|Neurocutaneous melanosis|Giant pigmented hairy nevus|Hepatocellular carcinoma|not provided
HGVS variant names NC 000001.10:g.115256529T>C
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:164790.0002,UniProtKB (protein):P01111#VAR 006847
Gene symbol:Gene id. NRAS:4893
SO:0001583|missense variant
3
dbSNP ID 11554290
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

263939
Human Phenotype Ontology:HP:0006740,MedGen:C0279680|MeSH:C538231,MedGen:C0152013|MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004|MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004|MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007|MeSH:D002292,MedGen:CN182935|MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009|MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003|MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005|MeSH:D009303,MedGen:C0027439|MeSH:D013964,MedGen:C0040136|MeSH:D015179,MedGen:CN236642|MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000|MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007|MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501|MedGen:C0153574|MedGen:C0278701|MedGen:C0279663|MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001|MedGen:CN517202
Transitional cell carcinoma of the bladder|Adenocarcinoma of lung|Malignant melanoma of skin|Neoplasm of brain|Non-small cell lung cancer|Renal cell carcinoma|Glioblastoma|Malignant melanoma|Multiple myeloma|Nasopharyngeal Neoplasms|Neoplasm of the thyroid gland|Colorectal Neoplasms|Chronic lymphocytic leukemia|Acute myeloid leukemia|Adrenocortical carcinoma|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
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. NRAS:4893
SO:0001583|missense variant
3
dbSNP ID 11554290
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

363099
MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003
Malignant melanoma
HGVS variant names NC 000001.10:g.115256529 115256530delTGinsCT
no assertion criteria provided
Clinical Significance
Indel
SO:1000032
Gene symbol:Gene id. NRAS:4893
SO:0001583|missense variant
2
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