chr11:108196843:CT> Detail (hg19) (ATM, C11orf65)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:108,196,843-108,196,844 |
| hg38 | chr11:108,326,116-108,326,117 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001351834.1:c.6866_6867delCT | NP_001338763.1:p.Ser2289Ter |
| NM_000051.3:c.6866_6867delCT | NP_000042.3:p.Ser2289Ter | |
| Ensemble | ENST00000713844.1:c.6866_6867delCT | ENST00000713844.1:p.Ser2289Ter |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001330368.1:c.641-17046_641-17045delAG | |
| Ensemble | ENST00000525729.5:c.641-17046_641-17045delAG |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| prostate cancer | Olaparib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 26510020 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Treatment with the PARP inhibitor olaparib in patients whose prostate cancers were no longer respond... | 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
- chr11:108,196,843-108,196,844
- Variant Type
- snv
- Reference Allele
- CT
- Alternative Allele
- -
- Variant (CIViC) (CIViC Variant)
- V2288FS*1
- Transcript 1 (CIViC Variant)
- ENST00000278616.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/243
- Summary (CIViC Variant)
- A frameshift mutation predicted to cause truncation before the C-terminal phosphoinositide 3-kinase (PI3K) catalytic domain.
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