View genomic variant #0000000069

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>T
Published as -
GERP 5.580
Segregation -
DB-ID NRAS_000003
MSCV MSCV_0000069
dbSNP ID -
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 8.0E-5 View details
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

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Variant ID     

Affects function     

DNA change (cDNA)     

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GVS function     

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RNA change     

SIFT     
NRAS 00003322 NM_002524.4 0000000069 ?/? c.35G>A p.(Gly12Asp) missense_variant - 2/7 possibly_damaging(0.726) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000429393; RCV000423890; RCV000439421; RCV000419124; RCV000438750; RCV000438967; RCV000421072; RCV000432178; RCV000037576; RCV000158986;
Chromosome 1:115258747..115258747
ClinVar Allele ID 48940
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:0006775, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:ORPHA29073, SNOMED CT:109989006, SNOMED CT:55921005|Human Phenotype Ontology:HP:0012056, MeSH:D008545, MedGen:C0025202|MeSH:C562393, MedGen:C0151779, SNOMED CT:93655004|MeSH:D009190, MedGen:C3463824, OMIM:614286, Orphanet:ORPHA52688|MeSH:D009634, MedGen:C0028326, Orphanet:ORPHA648, SNOMED CT:205824006|MeSH:D015179, MedGen:CN236642|MedGen:C0153574, Orphanet:ORPHA213569|MedGen:C0278701|MedGen:CN517202
ClinVar preferred disease name Acute myeloid leukemia|Multiple myeloma|Cutaneous melanoma|Malignant melanoma of skin|Myelodysplastic syndrome|Noonan syndrome|Colorectal Neoplasms|Malignant neoplasm of body of uterus|Adenocarcinoma of stomach|not provided
HGVS variant names NC 000001.10:g.115258747C>A
ClinVar review status criteria provided, multiple submitters, no conflicts
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 121913237
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000426950; RCV000433455; RCV000444670; RCV000434113; RCV000444591; RCV000437165; RCV000418647; RCV000425963; RCV000203450; RCV000427550; RCV000380895;
Chromosome 1:115258747..115258747
ClinVar Allele ID 216786
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: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:0030358, MeSH:D002289, MedGen:C0007131, SNOMED CT:254637007|MeSH:C562393, MedGen:C0151779, SNOMED CT:93655004|MeSH:D009190, MedGen:C3463824, OMIM:614286, Orphanet:ORPHA52688|MeSH:D015179, MedGen:CN236642|MedGen:C0153574, Orphanet:ORPHA213569|MedGen:C0278701|MedGen:CN234857|MedGen:CN517202
ClinVar preferred disease name Acute myeloid leukemia|Multiple myeloma|Cutaneous melanoma|Non-small cell lung cancer|Malignant melanoma of skin|Myelodysplastic syndrome|Colorectal Neoplasms|Malignant neoplasm of body of uterus|Adenocarcinoma of stomach|Myelodysplastic syndrome progressed to acute myeloid leukemia|not provided
HGVS variant names NC 000001.10:g.115258747C>G
ClinVar review status criteria provided, multiple submitters, no conflicts
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 121913237
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000436228; RCV000434517; RCV000427949; RCV000417869; RCV000032849; RCV000144963; RCV000440963; RCV000430706; RCV000417702; RCV000424239; RCV000439064; RCV000158980;
Chromosome 1:115258747..115258747
Allele frequencies from ESP 0.0001
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 48247
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: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:0012209, MedGen:C0349639, OMIM:607785, Orphanet:ORPHA86834|Human Phenotype Ontology:HP:0030358, MeSH:D002289, MedGen:C0007131, SNOMED CT:254637007|MeSH:C562393, MedGen:C0151779, SNOMED CT:93655004|MeSH:D009190, MedGen:C3463824, OMIM:614286, Orphanet:ORPHA52688|MeSH:D015179, MedGen:CN236642|MedGen:C0153574, Orphanet:ORPHA213569|MedGen:C0278701|MedGen:CN517202
ClinVar preferred disease name Acute myeloid leukemia|Multiple myeloma|Epidermal nevus|Cutaneous melanoma|Juvenile myelomonocytic leukemia|Non-small cell lung cancer|Malignant melanoma of skin|Myelodysplastic syndrome|Colorectal Neoplasms|Malignant neoplasm of body of uterus|Adenocarcinoma of stomach|not provided
HGVS variant names NC 000001.10:g.115258747C>T
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 OMIM Allelic Variant:164790.0007|UniProtKB (protein):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:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs1219132371115258747115258747C/G/T/Aclinically associatedNoonans syndrome