Genomic variant #0000000069

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.115258747C>T
Published as -
GERP 5.580
Segregation -
DB-ID NRAS_000003
dbSNP ID -
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 8.0E-5 View details
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.35G>A p.(Gly12Asp) missense_variant - 2/7 possibly_damaging(0.726) r.(?) deleterious(0)


ClinVar @ MSeqDR

48940
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
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
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. NRAS:4893
SO:0001583|missense variant
3
dbSNP ID 121913237
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

216786
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
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
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. NRAS:4893
SO:0001583|missense variant
3
dbSNP ID 121913237
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

0.0001
0.00001
48247
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
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
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:164790.0007|UniProtKB (protein):P01111#VAR 071129
Gene symbol:Gene id. NRAS:4893
SO:0001583|missense variant
3
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