View genomic variant #0000000268

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.534286C>G
Published as -
GERP 3.000
Segregation -
DB-ID HRAS_000008
MSCV MSCV_0000268
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

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     

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PolyPhen     

RNA change     

SIFT     
HRAS 00003315 NM_176795.3 0000000268 ?/? c.37G>C p.(Gly13Arg) missense_variant,NMD_transcript_variant - 2/7 probably_damaging(0.999) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000433893; RCV000439052; RCV000434069; RCV000444110; RCV000013440; RCV000445336; RCV000420958; RCV000426653; RCV000436205; RCV000417661; RCV000439954; RCV000424247; RCV000428812; RCV000425964; RCV000149831; RCV000423190; RCV000441514; RCV000431688; RCV000436007; RCV00044;
Chromosome 11:534286..534286
ClinVar Allele ID 27645
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:0006725, MedGen:C0281361|Human Phenotype Ontology:HP:0006739, MedGen:C0553723|Human Phenotype Ontology:HP:0006740, MedGen:C0279680|Human Phenotype Ontology:HP:0006775, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:ORPHA29073, SNOMED CT:109989006, SNOMED CT:55921005|Human Phenotype Ontology:HP:0030078, MeSH:C538231, MedGen:C0152013|Human Phenotype Ontology:HP:0030359, MedGen:C0149782|Human Phenotype Ontology:HP:0100013, MeSH:D001943, MedGen:C1458155, Orphanet:ORPHA180250, SNOMED CT:126926005|Human Phenotype Ontology:HP:0100031, MeSH:D013964, MedGen:C0040136, Orphanet:ORPHA100087|MeSH:C535575, MedGen:C1168401, OMIM:275355, Orphanet:ORPHA67037|MeSH:C562393, MedGen:C0151779, SNOMED CT:93655004|MeSH:D002583, MedGen:CN236667|MeSH:D009369, MedGen:C0027651, SNOMED CT:108369006|MeSH:D015179, MedGen:CN236642|MedGen:C0153574, Orphanet:ORPHA213569|MedGen:C0278701|MedGen:C0587248, OMIM:218040, Orphanet:ORPHA3071, SNOMED CT:309776008|MedGen:C2239176, OMIM:114550, Orphanet:ORPHA88673, SNOMED CT:187769009, SNOMED CT:25370001|MedGen:CN166718, Orphanet:ORPHA98733|MedGen:CN517202
ClinVar preferred disease name Acute myeloid leukemia|Chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Multiple myeloma|Lung adenocarcinoma|Squamous cell lung carcinoma|Neoplasm of the breast|Neoplasm of the thyroid gland|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Uterine cervical neoplasms|Neoplasm|Colorectal Neoplasms|Malignant neoplasm of body of uterus|Adenocarcinoma of stomach|Costello syndrome|Hepatocellular carcinoma|Rasopathy|not provided
HGVS variant names NC 000011.9:g.534286C>A
ClinVar review status reviewed by expert panel
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:190020.0007|UniProtKB (protein):P01112#VAR 026107
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin
dbSNP ID 104894228
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000439826; RCV000424371; RCV000420422; RCV000420481; RCV000032852; RCV000029213; RCV000430065; RCV000439525; RCV000430227; RCV000422625; RCV000443949; RCV000173005; RCV000432361; RCV000418725; RCV000029212; RCV000427669; RCV000173006; RCV000431824; RCV000435072; RCV00041;
Chromosome 11:534286..534286
ClinVar Allele ID 44227
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:0006725, MedGen:C0281361|Human Phenotype Ontology:HP:0006739, MedGen:C0553723|Human Phenotype Ontology:HP:0006740, MedGen:C0279680|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:0030078, MeSH:C538231, MedGen:C0152013|Human Phenotype Ontology:HP:0030359, MedGen:C0149782|Human Phenotype Ontology:HP:0100013, MeSH:D001943, MedGen:C1458155, Orphanet:ORPHA180250, SNOMED CT:126926005|Human Phenotype Ontology:HP:0100031, MeSH:D013964, MedGen:C0040136, Orphanet:ORPHA100087|MeSH:C535575, MedGen:C1168401, OMIM:275355, Orphanet:ORPHA67037|MeSH:C562393, MedGen:C0151779, SNOMED CT:93655004|MeSH:D002583, MedGen:CN236667|MeSH:D015179, MedGen:CN236642|MedGen:C0153574, Orphanet:ORPHA213569|MedGen:C0265318, OMIM:163200, SNOMED CT:239112008|MedGen:C0278701|MedGen:C0853032|MedGen:C2239176, OMIM:114550, Orphanet:ORPHA88673, SNOMED CT:187769009, SNOMED CT:25370001
ClinVar preferred disease name NEVUS SPILUS, SOMATIC|SPITZ NEVUS, SOMATIC|Acute myeloid leukemia|Chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Multiple myeloma|Epidermal nevus|Lung adenocarcinoma|Squamous cell lung carcinoma|Neoplasm of the breast|Neoplasm of the thyroid gland|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Uterine cervical neoplasms|Colorectal Neoplasms|Malignant neoplasm of body of uterus|Epidermal nevus syndrome|Adenocarcinoma of stomach|Nevus sebaceous|Hepatocellular carcinoma
HGVS variant names NC 000011.9:g.534286C>G
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic/Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:190020.0017|UniProtKB (protein):P01112#VAR 068817
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin somatic
dbSNP ID 104894228
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000430707; RCV000417857; RCV000422141; RCV000424171; RCV000435549; RCV000430043; RCV000440979; RCV000427918;
Chromosome 11:534286..534286
ClinVar Allele ID 363202
Disease database name and identifier Human Phenotype Ontology:HP:0006739, MedGen:C0553723|Human Phenotype Ontology:HP:0006740, MedGen:C0279680|Human Phenotype Ontology:HP:0030078, MeSH:C538231, MedGen:C0152013|Human Phenotype Ontology:HP:0030359, MedGen:C0149782|Human Phenotype Ontology:HP:0100013, MeSH:D001943, MedGen:C1458155, Orphanet:ORPHA180250, SNOMED CT:126926005|MeSH:C535575, MedGen:C1168401, OMIM:275355, Orphanet:ORPHA67037|MeSH:C562393, MedGen:C0151779, SNOMED CT:93655004|MeSH:D009369, MedGen:C0027651, SNOMED CT:108369006
ClinVar preferred disease name Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Lung adenocarcinoma|Squamous cell lung carcinoma|Neoplasm of the breast|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Neoplasm
HGVS variant names NC 000011.9:g.534286C>T
ClinVar review status no assertion criteria provided
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin somatic
dbSNP ID 104894228
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
rs10489422811534286534286C/G/T/AOMIM phenotype variantsCOSTELLO SYNDROME
rs10489422811534286534286C/G/T/AOMIM phenotype variantsNEVUS SEBACEOUS, SOMATIC
rs10489422811534286534286C/G/T/AOMIM phenotype variantsSCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC
rs10489422811534286534286C/G/T/AOMIM phenotype variantsNevus, epidermal, somatic
CM06001811534286534286HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available