chr11:108093559:> Detail (hg19) (ATM)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:108,093,559-108,239,826 |
| hg38 | chr11:108,222,832-108,369,099 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| chronic lymphocytic leukemia | A |
Prognostic
|
Supports
|
Poor Outcome |
N/A
|
5 | 26837699 | Detail | |
| mantle cell lymphoma | Olaparib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 20124459 | Detail |
| prostate cancer | Olaparib | C |
Predictive
|
Supports
|
Sensitivity/Response | Rare Germline | 3 | 26510020 | Detail |
| chronic lymphocytic leukemia | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 3 | 21993670 | Detail | |
| glioblastoma | Temozolomide | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 23960094 | Detail |
| melanoma | Temozolomide | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 23960094 | Detail |
| hematologic cancer | Olaparib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 5 | 20739657 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a study of 406 previously untreated CLL cases, a multivariate analysis indicated that aberrations... | CIViC Evidence | Detail |
| Two ATM deficient mantle cell lymphoma (MCL) cell lines were more sensitive to PARP-1 inhibition wit... | CIViC Evidence | Detail |
| Response to olaparib was observed in 4 of 5 with prostate cancer patients with ATM aberrations (2 ge... | CIViC Evidence | Detail |
| ATM point mutations were found in 8/57 patients with CLL and were associated with a shorter treatmen... | CIViC Evidence | Detail |
| Glioblastoma cell lines were shown to have increased sensitivity to Temozolomide when siRNA-induced ... | CIViC Evidence | Detail |
| Melanoma cell lines were shown to have increased sensitivity to Temozolomide when siRNA-induced ATM ... | CIViC Evidence | Detail |
| Olaparib was found to inhibit cancer cell growth in ATM mutant cell lines of several blood cancers i... | CIViC Evidence | 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
- -
- Genome
- hg19
- Position
- chr11:108,093,559-108,239,826
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Transcript 1 (CIViC Variant)
- ENST00000278616.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/178
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