Genomic variant #0000000271

Chromosome 11
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.534288C>A
Published as -
GERP 3.000
Segregation -
DB-ID HRAS_000001
dbSNP ID rs104894230
Frequency -
Sources ;
Reference 16170316;22499344;16443854;20658932;17412879;18039947;6092966;6330729;17979197;21344638;{PMID:171
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.35G>T p.(Gly12Val) missense_variant,NMD_transcript_variant - 2/7 probably_damaging(0.998) r.(?) deleterious(0)


ClinVar @ MSeqDR

27639
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:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087|MedGen:C0005684,OMIM:109800,Orphanet:ORPHA157980,SNOMED CT:399326009|MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008|MedGen:C1968782|MedGen:CN517202
Epidermal nevus|Cutaneous melanoma|Neoplasm of the thyroid gland|Malignant tumor of urinary bladder|Costello syndrome|Myopathy, congenital, with excess of muscle spindles|not provided
HGVS variant names NC 000011.9:g.534288C>A
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:190020.0001|UniProtKB (protein):P01112#VAR 006836
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
SO:0001583|missense variant,SO:0001623|5 prime UTR variant
3
dbSNP ID 104894230
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

27642
Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007|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:0011459,MedGen:C0152018,Orphanet:ORPHA70482|Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013|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|Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009|MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037|MeSH:C538614,MedGen:C1336078|MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004|MeSH:D002583,MedGen:CN236667|MeSH:D003528,MedGen:C0010606|MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688|MeSH:D009303,MedGen:C0027439|MeSH:D015179,MedGen:CN236642|MeSH:D030342,MedGen:C0950123|MedGen:C0007112|MedGen:C0153574,Orphanet:ORPHA213569|MedGen:C0278701|MedGen:C0279663|MedGen:C0280630|MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008|MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001|MedGen:CN517202
Acute myeloid leukemia|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Multiple myeloma|Carcinoma of esophagus|Lung adenocarcinoma|Neoplasm of the breast|Neoplasm of the thyroid gland|Glioblastoma|Squamous cell carcinoma of the head and neck|Papillary renal cell carcinoma, sporadic|Malignant melanoma of skin|Uterine cervical neoplasms|Adenoid cystic carcinoma|Myelodysplastic syndrome|Nasopharyngeal Neoplasms|Colorectal Neoplasms|Inborn genetic diseases|Adenocarcinoma of prostate|Malignant neoplasm of body of uterus|Adenocarcinoma of stomach|Ovarian Serous Cystadenocarcinoma|Uterine Carcinosarcoma|Costello syndrome|Hepatocellular carcinoma|not provided
HGVS variant names NC 000011.9:g.534288C>G
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:190020.0004|UniProtKB (protein):P01112#VAR 026106
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
SO:0001583|missense variant,SO:0001623|5 prime UTR variant
3
dbSNP ID 104894230
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

27651
Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005|MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008|MedGen:C0853032|MedGen:C4016398|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN517202
Neoplasm of the breast|Costello syndrome|Nevus sebaceous|Costello syndrome, severe|Rasopathy|not provided
HGVS variant names NC 000011.9:g.534288C>T
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:190020.0013|UniProtKB (protein):P01112#VAR 068816
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
SO:0001583|missense variant,SO:0001623|5 prime UTR variant
3
dbSNP ID 104894230
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
rs10489423011534288534288C/G/T/AOMIM phenotype variantsCOSTELLO SYNDROME
rs10489423011534288534288C/G/T/AOMIM phenotype variantsCOSTELLO SYNDROME, SEVERE
rs10489423011534288534288C/G/T/AOMIM phenotype variantsBladder cancer, somatic
rs10489423011534288534288C/G/T/AOMIM phenotype variantsMYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
rs10489423011534288534288C/G/T/AOMIM phenotype variantsNevus, epidermal, somatic
rs10489423011534288534288C/G/T/AOMIM phenotype variantsNEVUS SEBACEOUS, SOMATIC
CM05328411534288534288HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CM08130511534288534288HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available