View genomic variant #0000000269
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>T |
Published as |
- |
GERP |
3.000 |
Segregation |
- |
DB-ID |
HRAS_000009 |
MSCV |
MSCV_0000269 |
dbSNP ID |
NA |
Frequency |
- |
Sources |
; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000013440; RCV000149831; RCV000207504; RCV000417661; RCV000424247; RCV000425964; RCV000420958; RCV000423190; RCV000428812; RCV000426653; RCV000433893; RCV000431688; RCV000434069; RCV000436007; RCV000436205; RCV000444110; RCV000445225; RCV000439052; RCV000441514; RCV00043; | Chromosome | 11:534286..534286 | ClinVar Allele ID | 27645 | Disease database name and identifier | MONDO:MONDO:0020297, MedGen:C5681679, Orphanet:98733|Human Phenotype Ontology:HP:0033770, MONDO:MONDO:0005036, MedGen:C0278701|Human Phenotype Ontology:HP:0002664, Human Phenotype Ontology:HP:0003008, Human Phenotype Ontology:HP:0006741, MONDO:MONDO:0005070, MeSH:D009369, MedGen:C0027651|Human Phenotype Ontology:HP:0032241, MONDO:MONDO:0021230, MeSH:D002583, MedGen:C0007873|MedGen:C0153574|Human Phenotype Ontology:HP:0100031, MONDO:MONDO:0015074, MeSH:D013964, MedGen:C0040136, Orphanet:100087|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|.|MONDO:MONDO:0009026, MedGen:C0587248, OMIM:218040, Orphanet:3071|Human Phenotype Ontology:HP:0010816, MONDO:MONDO:0008093, MedGen:C0334082, OMIM:162900, Orphanet:79414|MONDO:MONDO:0008566, MedGen:C4225426, OMIM:188470|MONDO:MONDO:0001187, MedGen:C0005684, OMIM:109800, Orphanet:157980|Human Phenotype Ontology:HP:0010817, MONDO:MONDO:0008097, MedGen:C4552097, OMIM:163200, Orphanet:2612|Human Phenotype Ontology:HP:0005600, Human Phenotype Ontology:HP:0005604, MONDO:MONDO:0044792, MedGen:C1842036, OMIM:137550, Orphanet:626|Human Phenotype Ontology:HP:0006725, MONDO:MONDO:0006047, MedGen:C0281361|Human Phenotype Ontology:HP:0010623, Human Phenotype Ontology:HP:0100013, MONDO:MONDO:0021100, MeSH:D001943, MedGen:C1458155|MedGen:C3661900|MONDO:MONDO:0021060, MedGen:C5555857, Orphanet:536391|MONDO:MONDO:0018997, MeSH:D009634, MedGen:C0028326, OMIM:PS163950, Orphanet:648|Human Phenotype Ontology:HP:0005550, Human Phenotype Ontology:HP:0006734, Human Phenotype Ontology:HP:0006760, MONDO:MONDO:0004948, MeSH:D015451, MedGen:C0023434, OMIM:151400, Orphanet:67038|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779|Human Phenotype Ontology:HP:0001914, Human Phenotype Ontology:HP:0004808, Human Phenotype Ontology:HP:0004843, Human Phenotype Ontology:HP:0005516, Human Phenotype Ontology:HP:0006724, Human Phenotype Ontology:HP:0006728, MONDO:MONDO:0018874, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:519|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|Human Phenotype Ontology:HP:0001402, Human Phenotype Ontology:HP:0002899, Human Phenotype Ontology:HP:0003007, Human Phenotype Ontology:HP:0006750, MONDO:MONDO:0007256, MedGen:C2239176, OMIM:114550, Orphanet:88673|Human Phenotype Ontology:HP:0030359, MONDO:MONDO:0005097, MedGen:C0149782|Human Phenotype Ontology:HP:0030078, MONDO:MONDO:0005061, MeSH:D000077192, MedGen:C0152013|MONDO:MONDO:0010150, MeSH:D000077195, MedGen:C1168401, OMIM:275355, Orphanet:67037|Human Phenotype Ontology:HP:0006740, MONDO:MONDO:0005611, MedGen:C0279680|Human Phenotype Ontology:HP:0006739, Human Phenotype Ontology:HP:0007614, MONDO:MONDO:0002529, MedGen:C0553723 | ClinVar preferred disease name | Noonan syndrome and Noonan-related syndrome|Gastric adenocarcinoma|Neoplasm|Neoplasm of uterine cervix|Malignant neoplasm of body of uterus|Thyroid tumor|Neoplasm of the large intestine|HRAS-related condition|Costello syndrome|Epidermal nevus|Thyroid cancer, nonmedullary, 2|Malignant tumor of urinary bladder|Linear nevus sebaceous syndrome|Large congenital melanocytic nevus|Pancreatic adenocarcinoma|Breast neoplasm|not provided|RASopathy|Noonan syndrome|Chronic lymphatic leukemia|Malignant melanoma of skin|Acute myeloid leukemia|Multiple myeloma|Hepatocellular carcinoma|Squamous cell lung carcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the skin | 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 | ClinGen:CA295247|OMIM:190020.0007|UniProtKB: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 | RCV000029212; RCV000029213; RCV000032852; RCV000173005; RCV000173006; RCV000424371; RCV000431824; RCV000418725; RCV000420422; RCV000420481; RCV000419344; RCV000432361; RCV000439826; RCV000422625; RCV000427669; RCV000430065; RCV000430227; RCV000435072; RCV000437649; RCV00044; | Chromosome | 11:534286..534286 | ClinVar Allele ID | 44227 | Disease database name and identifier | Human Phenotype Ontology:HP:0005550, Human Phenotype Ontology:HP:0006734, Human Phenotype Ontology:HP:0006760, MONDO:MONDO:0004948, MeSH:D015451, MedGen:C0023434, OMIM:151400, Orphanet:67038|.|MONDO:MONDO:0023644, MedGen:C0220641|MONDO:MONDO:0020297, MedGen:C5681679, Orphanet:98733|MedGen:C0153574|Human Phenotype Ontology:HP:0032241, MONDO:MONDO:0021230, MeSH:D002583, MedGen:C0007873|Human Phenotype Ontology:HP:0033770, MONDO:MONDO:0005036, MedGen:C0278701|Human Phenotype Ontology:HP:0100031, MONDO:MONDO:0015074, MeSH:D013964, MedGen:C0040136, Orphanet:100087|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779|Human Phenotype Ontology:HP:0010816, MONDO:MONDO:0008093, MedGen:C0334082, OMIM:162900, Orphanet:79414|Human Phenotype Ontology:HP:0001790, MONDO:MONDO:0009369, MedGen:C0455988, OMIM:236750, Orphanet:363999|Human Phenotype Ontology:HP:0010815, MedGen:C3854181|Human Phenotype Ontology:HP:0010817, MONDO:MONDO:0008097, MedGen:C4552097, OMIM:163200, Orphanet:2612|Human Phenotype Ontology:HP:0001402, Human Phenotype Ontology:HP:0002899, Human Phenotype Ontology:HP:0003007, Human Phenotype Ontology:HP:0006750, MONDO:MONDO:0007256, MedGen:C2239176, OMIM:114550, Orphanet:88673|Human Phenotype Ontology:HP:0001914, Human Phenotype Ontology:HP:0004808, Human Phenotype Ontology:HP:0004843, Human Phenotype Ontology:HP:0005516, Human Phenotype Ontology:HP:0006724, Human Phenotype Ontology:HP:0006728, MONDO:MONDO:0018874, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:519|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|MONDO:MONDO:0044656, MedGen:C1302848, Orphanet:497737|Human Phenotype Ontology:HP:0030359, MONDO:MONDO:0005097, MedGen:C0149782|Human Phenotype Ontology:HP:0030078, MONDO:MONDO:0005061, MeSH:D000077192, MedGen:C0152013|MONDO:MONDO:0009026, MedGen:C0587248, OMIM:218040, Orphanet:3071|Human Phenotype Ontology:HP:0006725, MONDO:MONDO:0006047, MedGen:C0281361|Human Phenotype Ontology:HP:0010623, Human Phenotype Ontology:HP:0100013, MONDO:MONDO:0021100, MeSH:D001943, MedGen:C1458155|MONDO:MONDO:0010150, MeSH:D000077195, MedGen:C1168401, OMIM:275355, Orphanet:67037|Human Phenotype Ontology:HP:0006740, MONDO:MONDO:0005611, MedGen:C0279680|Human Phenotype Ontology:HP:0006739, Human Phenotype Ontology:HP:0007614, MONDO:MONDO:0002529, MedGen:C0553723|.|. | ClinVar preferred disease name | Chronic lymphatic leukemia|cutaneous-skeletal hypophosphatemia syndrome|Lip and oral cavity carcinoma|Noonan syndrome and Noonan-related syndrome|Malignant neoplasm of body of uterus|Neoplasm of uterine cervix|Gastric adenocarcinoma|Thyroid tumor|Neoplasm of the large intestine|Malignant melanoma of skin|Epidermal nevus|Non-immune hydrops fetalis|Nevus sebaceous|Linear nevus sebaceous syndrome|Hepatocellular carcinoma|Acute myeloid leukemia|Multiple myeloma|Epidermolytic nevus|Squamous cell lung carcinoma|Lung adenocarcinoma|Costello syndrome|Pancreatic adenocarcinoma|Breast neoplasm|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the skin|NEVUS SPILUS, SOMATIC|SPITZ NEVUS, SOMATIC | HGVS variant names | NC 000011.9:g.534286C>G | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA129950|OMIM:190020.0017|UniProtKB: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 | | dbSNP ID | 104894228 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000417857; RCV000422141; RCV000424171; RCV000427918; RCV000430707; RCV000430043; RCV000435549; RCV000440979; RCV000662270; RCV002524694; | Chromosome | 11:534286..534286 | ClinVar Allele ID | 363202 | Disease database name and identifier | .|Human Phenotype Ontology:HP:0010623, Human Phenotype Ontology:HP:0100013, MONDO:MONDO:0021100, MeSH:D001943, MedGen:C1458155|Human Phenotype Ontology:HP:0030078, MONDO:MONDO:0005061, MeSH:D000077192, MedGen:C0152013|Human Phenotype Ontology:HP:0002664, Human Phenotype Ontology:HP:0003008, Human Phenotype Ontology:HP:0006741, MONDO:MONDO:0005070, MeSH:D009369, MedGen:C0027651|MONDO:MONDO:0010150, MeSH:D000077195, MedGen:C1168401, OMIM:275355, Orphanet:67037|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779|MONDO:MONDO:0009026, MedGen:C0587248, OMIM:218040, Orphanet:3071|Human Phenotype Ontology:HP:0006739, Human Phenotype Ontology:HP:0007614, MONDO:MONDO:0002529, MedGen:C0553723|Human Phenotype Ontology:HP:0030359, MONDO:MONDO:0005097, MedGen:C0149782|Human Phenotype Ontology:HP:0006740, MONDO:MONDO:0005611, MedGen:C0279680 | ClinVar preferred disease name | Vascular Tumors Including Pyogenic Granuloma|Breast neoplasm|Lung adenocarcinoma|Neoplasm|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Costello syndrome|Squamous cell carcinoma of the skin|Squamous cell lung carcinoma|Transitional cell carcinoma of the bladder | HGVS variant names | NC 000011.9:g.534286C>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA16602769 | 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
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
None Ensembl Variant Phenotype Information:
None
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