chr2:209113113:G>C Detail (hg19) (IDH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:209,113,113-209,113,113 |
| hg38 | chr2:208,248,389-208,248,389 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005896.3:c.394C>G | NP_005887.2:p.Arg132Gly |
| NM_001282387.1:c.394C>G | NP_001269316.1:p.Arg132Gly | |
| NM_001282386.1:c.394C>G | NP_001269315.1:p.Arg132Gly |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 4 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| 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
|
ill-defined sites within the digestive system |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | medulloblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of brain |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | adenoid cystic carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Pathogenic
|
2016-05-31 | no assertion criteria provided | acute myeloid leukemia |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | myelodysplastic syndrome |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Multiple myeloma | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Medulloblastoma | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Neoplasm of brain | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Adenoid cystic carcinoma | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Breast neoplasm | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Glioblastoma | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Brainstem glioma | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) AND Myelodysplastic syndrome | ClinVar | 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
- rs121913499 dbSNP
- Genome
- hg19
- Position
- chr2:209,113,113-209,113,113
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- R132G
- Transcript 1 (CIViC Variant)
- ENST00000415913.1
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/927
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