View genomic variant #0000000067

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>A
Published as -
GERP 5.580
Segregation -
DB-ID NRAS_000001
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
NRAS NM_002524.4 ./. c.35G>T p.(Gly12Val) missense_variant - 2/7 possibly_damaging(0.902) r.(?) deleterious(0)


ClinVar @ MSeqDR

48940
MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004|MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003|MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005|MeSH:D009190,MedGen:C0026986,OMIM:614286|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006|MeSH:D015179,MedGen:CN236642|MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007|MedGen:C0153574|MedGen:C0278701|MedGen:CN517202
Malignant melanoma of skin|Malignant melanoma|Multiple myeloma|Myelodysplastic syndrome|Noonan syndrome|Colorectal Neoplasms|Acute myeloid leukemia|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
MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004|MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007|MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003|MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005|MeSH:D009190,MedGen:C0026986,OMIM:614286|MeSH:D015179,MedGen:CN236642|MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007|MedGen:C0153574|MedGen:C0278701|MedGen:CN234857|MedGen:CN517202
Malignant melanoma of skin|Non-small cell lung cancer|Malignant melanoma|Multiple myeloma|Myelodysplastic syndrome|Colorectal Neoplasms|Acute myeloid leukemia|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
MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004|MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007|MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003|MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005|MeSH:D009190,MedGen:C0026986,OMIM:614286|MeSH:D015179,MedGen:CN236642|MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007|MedGen:C0153574|MedGen:C0278701|MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003|MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834|MedGen:CN517202
Malignant melanoma of skin|Non-small cell lung cancer|Malignant melanoma|Multiple myeloma|Myelodysplastic syndrome|Colorectal Neoplasms|Acute myeloid leukemia|Malignant neoplasm of body of uterus|Adenocarcinoma of stomach|Epidermal nevus|Juvenile myelomonocytic leukemia|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