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 |
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Variant entry | 4 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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Acute myeloblastic leukaemia |
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MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
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ill-defined sites within the digestive system |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | multiple myeloma |
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Detail |
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2016-05-31 | no assertion criteria provided | medulloblastoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Neoplasm of brain |
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Detail |
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2016-05-31 | no assertion criteria provided | adenoid cystic carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided |
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Detail | |
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2016-05-31 | no assertion criteria provided | Breast neoplasm |
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Detail |
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2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
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Detail |
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2016-05-31 | no assertion criteria provided | acute myeloid leukemia |
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Detail |
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2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
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Detail |
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2016-05-31 | no assertion criteria provided | glioblastoma |
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Detail |
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2016-05-31 | no assertion criteria provided |
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Detail | |
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2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | myelodysplastic syndrome |
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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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