chr2:208248387:> Detail (hg38) (IDH1)

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Information

Genome

Assembly	Position
hg19	chr2:209,113,111-209,113,113
hg38	chr2:208,248,387-208,248,389

Type	Transcript	Protein

Summary

[No Data.]

[No Data.]

Links

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
acute myeloid leukemia		B	Prognostic	Does Not Support	N/A	Somatic	3	20805365	Detail
high grade glioma	Bevacizumab,Sunitinib	B	Predictive	Supports	Sensitivity/Response	Somatic	2	22199315	Detail
acute myeloid leukemia		B	Diagnostic	Supports	Positive	Somatic	2	20376086	Detail
high grade glioma	Bevacizumab	B	Predictive	Supports	Sensitivity/Response	Somatic	2	22199315	Detail
acute myeloid leukemia		B	Prognostic	Does Not Support	N/A	Somatic	2	20368538	Detail
malignant astrocytoma		B	Prognostic	Supports	Better Outcome	Somatic	3	19933982	Detail
glioblastoma		B	Prognostic	Supports	Better Outcome	Somatic	3	20127344	Detail
myelodysplastic syndrome		B	Prognostic	Supports	Poor Outcome	Somatic	4	20494930	Detail
glioblastoma		B	Prognostic	Supports	Better Outcome	Somatic	5	19228619	Detail
malignant astrocytoma		B	Prognostic	Supports	Better Outcome	Somatic	5	19228619	Detail
intrahepatic cholangiocarcinoma	Dasatinib	D	Predictive	Supports	Sensitivity/Response	Somatic	4	27231123	Detail

DisGeNET

[No Data.]

Annotation

Descrption	Source	Links
Mutation status of IDH1 did not change event-free survival of patients with an NPM1 mutation.	CIViC Evidence	Detail
In a clinical study of 63 recurrent glioma patients, the combined cohort of patients treated with ei...	CIViC Evidence	Detail
In leukemia patients, IDH1 R132 mutation is associated with adults and normal karyotype.	CIViC Evidence	Detail
In a clinical study of 63 recurrent glioma patients, patients treated with bevacizumab monotherapy (...	CIViC Evidence	Detail
The complete remission and overall survival rates in patients with IDH1 R132 mutation is not signifi...	CIViC Evidence	Detail
In patients with astrocytoma, the presence of IDH1 R132 mutation is prognostic for better survival c...	CIViC Evidence	Detail
In patients with glioblastoma, those harboring IDH1 R132 mutation has higher overall survival compar...	CIViC Evidence	Detail
IDH1 R132 mutation in patients suffering from myelodysplastic syndromes is associated with worse ove...	CIViC Evidence	Detail
In patients with a glioblastoma, those with mutations at R132 of IDH1 had better overall survival th...	CIViC Evidence	Detail
In patients with anaplastic astrocytoma, those with mutations at R132 of IDH1 had better overall sur...	CIViC Evidence	Detail
Through a high-throughput drug screen of a large panel of cancer cell lines, including 17 biliary tr...	CIViC Evidence	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr2:208,248,387-208,248,389
Variant Type: snv
Variant (CIViC) (CIViC Variant): R132
Transcript 1 (CIViC Variant): ENST00000415913.1
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/58
Summary (CIViC Variant): IDH1 R132 mutations have been observed in a number of cancer types, and appear to behave quite differently in different environments. In myelodysplastic syndromes, IDH1 R132 mutations have been shown to be associated with worse outcome and shorter overall survival. They have also been linked to cytogenetically normal AML, an intermediate risk subtype of the disease. However, in glioblastoma and astrocytoma, patients with IDH1 mutations have shown better overall survival than patients with wild-type IDH1. Also in contrast to AML, in glioblastoma, IDH1 mutations have been associated with the specific cytogenetic abnormalities, 1p and 19q deletions.

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