chr15:90631935:G>A Detail (hg19) (IDH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:90,631,935-90,631,935 |
| hg38 | chr15:90,088,703-90,088,703 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001289910.1:c.262C>T | NP_001276839.1:p.Arg88Trp |
| NM_001290114.1:c.262C>T | NP_001277043.1:p.Arg88Trp | |
| NM_002168.3:c.418C>T | NP_002159.2:p.Arg140Trp |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
Acute myeloblastic leukaemia |
somatic
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
|
not provided
|
descending colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
colon, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2016-05-31 | no assertion criteria provided | acute myeloid leukemia |
somatic
|
Detail |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | myelodysplastic syndrome |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
|
Uncertain significance
|
2023-05-25 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | D-2-hydroxyglutaric aciduria 2 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND Myelodysplastic syndrome | ClinVar | Detail |
| NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND Multiple myeloma | ClinVar | Detail |
| NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs267606870 dbSNP
- Genome
- hg19
- Position
- chr15:90,631,935-90,631,935
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser