View genomic variant #0000000267

Chromosome 11
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.534286C>A
Published as -
GERP 3.000
Segregation -
DB-ID HRAS_000007
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     
HRAS NM_176795.3 ./. c.37G>T p.(Gly13Cys) missense_variant,NMD_transcript_variant - 2/7 probably_damaging(0.999) r.(?) deleterious(0.05)


ClinVar @ MSeqDR

27645
Human Phenotype Ontology:HP:0006739,MedGen:C0553723|Human Phenotype Ontology:HP:0006740,MedGen:C0279680|Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,SNOMED CT:126926005|MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037|MeSH:C538231,MedGen:C0152013|MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004|MeSH:D002583,MedGen:CN236667|MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005|MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006|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|MedGen:C0149782|MedGen:C0153574|MedGen:C0278701|MedGen:C0281361|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
Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Neoplasm of the breast|Squamous cell carcinoma of the head and neck|Adenocarcinoma of lung|Malignant melanoma of skin|Uterine cervical neoplasms|Multiple myeloma|Neoplasm|Neoplasm of the thyroid gland|Colorectal Neoplasms|Chronic lymphocytic leukemia|Acute myeloid leukemia|Squamous cell carcinoma of lung|Malignant neoplasm of body of uterus|Adenocarcinoma of stomach|Pancreatic adenocarcinoma|Costello syndrome|Hepatocellular carcinoma|Rasopathy|not provided
HGVS variant names NC 000011.9:g.534286C>A
reviewed by expert panel
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:190020.0007,UniProtKB (protein):P01112#VAR 026107
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
SO:0001583|missense variant,SO:0001623|5 prime UTR variant
3
dbSNP ID 104894228
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

44227
.|.|Human Phenotype Ontology:HP:0006739,MedGen:C0553723|Human Phenotype Ontology:HP:0006740,MedGen:C0279680|Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,SNOMED CT:126926005|MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037|MeSH:C538231,MedGen:C0152013|MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004|MeSH:D002583,MedGen:CN236667|MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005|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|MedGen:C0149782|MedGen:C0153574|MedGen:C0265318,OMIM:163200,SNOMED CT:239112008|MedGen:C0278701|MedGen:C0281361|MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003|MedGen:C0853032|MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001
NEVUS SPILUS, SOMATIC|SPITZ NEVUS, SOMATIC|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Neoplasm of the breast|Squamous cell carcinoma of the head and neck|Adenocarcinoma of lung|Malignant melanoma of skin|Uterine cervical neoplasms|Multiple myeloma|Neoplasm of the thyroid gland|Colorectal Neoplasms|Chronic lymphocytic leukemia|Acute myeloid leukemia|Squamous cell carcinoma of lung|Malignant neoplasm of body of uterus|Epidermal nevus syndrome|Adenocarcinoma of stomach|Pancreatic adenocarcinoma|Epidermal nevus|Nevus sebaceous|Hepatocellular carcinoma
HGVS variant names NC 000011.9:g.534286C>G
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:190020.0017,UniProtKB (protein):P01112#VAR 068817
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
SO:0001583|missense variant,SO:0001623|5 prime UTR variant
2
dbSNP ID 104894228
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

363202
Human Phenotype Ontology:HP:0006739,MedGen:C0553723|Human Phenotype Ontology:HP:0006740,MedGen:C0279680|Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,SNOMED CT:126926005|MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037|MeSH:C538231,MedGen:C0152013|MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004|MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006|MedGen:C0149782
Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Neoplasm of the breast|Squamous cell carcinoma of the head and neck|Adenocarcinoma of lung|Malignant melanoma of skin|Neoplasm|Squamous cell carcinoma of lung
HGVS variant names NC 000011.9:g.534286C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
SO:0001583|missense variant,SO:0001623|5 prime UTR variant
2
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