View genomic variant #0000000612
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.90631934C>T |
Published as |
- |
GERP |
4.750 |
Segregation |
- |
DB-ID |
IDH2_000001 See all 2 reported entries |
MSCV |
MSCV_0000612 |
dbSNP ID |
rs121913502 |
Frequency |
- |
Sources |
; clinVar; Ensembl; |
Reference |
20171147;20847235;23558173;24049096 |
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 | RCV000419881; RCV000424921; RCV000426646; RCV000435643; RCV000436884; | Chromosome | 15:90631934..90631934 | ClinVar Allele ID | 362867 | Disease database name and identifier | Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|MONDO:MONDO:0018881, MeSH:D009190, MedGen:C3463824, OMIM:614286, Orphanet:52688|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|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|MONDO:MONDO:0010150, MeSH:D000077195, MedGen:C1168401, OMIM:275355, Orphanet:67037 | ClinVar preferred disease name | Neoplasm of the large intestine|Myelodysplastic syndrome|Multiple myeloma|Acute myeloid leukemia|Squamous cell carcinoma of the head and neck | HGVS variant names | NC 000015.9:g.90631934C>A | 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 | ClinGen:CA16602463|Genetic Testing Registry (GTR):GTR000559520 | Gene symbol:Gene id. | IDH2:3418 | Molecular consequence | SO:0001583|missense variant | Allele origin | somatic | dbSNP ID | 121913502 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000015831; RCV000292094; RCV000420290; RCV000441454; RCV000419192; RCV000430530; RCV000431189; RCV002513067; | Chromosome | 15:90631934..90631934 | Allele frequencies from ExAC | 0.00010 | ClinVar Allele ID | 29755 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|MedGen:CN517202|MONDO:MONDO:0018881, MeSH:D009190, MedGen:C3463824, OMIM:614286, Orphanet:52688|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:0013345, MedGen:C3150909, OMIM:613657, Orphanet:79315|MONDO:MONDO:0010150, MeSH:D000077195, MedGen:C1168401, OMIM:275355, Orphanet:67037 | ClinVar preferred disease name | Inborn genetic diseases|Neoplasm of the large intestine|not provided|Myelodysplastic syndrome|Acute myeloid leukemia|Multiple myeloma|D-2-hydroxyglutaric aciduria 2|Squamous cell carcinoma of the head and neck | HGVS variant names | NC 000015.9:g.90631934C>T | 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:CA124277|Genetic Testing Registry (GTR):GTR000559520|OMIM:147650.0001|UniProtKB:P48735#VAR 065175 | Gene symbol:Gene id. | IDH2:3418 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 121913502 | 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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