chr1:11127739:G>A Detail (hg38) (MTOR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:11,187,796-11,187,796 View the variant detail on this assembly version. |
| hg38 | chr1:11,127,739-11,127,739 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004958.3:c.6101C>T | NP_004949.1:p.Ala2034Val |
| Ensemble | ENST00000361445.9:c.6101C>T | ENST00000361445.9:p.Ala2034Val |
| ENST00000703140.1:c.5888C>T | ENST00000703140.1:p.Ala1963Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2019-06-15 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| breast cancer | Sirolimus | D |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 27279227 | Detail |
| breast cancer | MTOR Kinase Inhibitor AZD8055,RapaLink-1 | D |
Predictive
|
Does Not Support
|
Resistance | Somatic | 4 | 27279227 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| MCF-7 breast cancer cell line was exposed to mTOR inhibitor rapamycin until resistance developed. De... | CIViC Evidence | Detail |
| MCF-7 breast cancer cell line was exposed to mTOR inhibitor rapamycin until resistance developed. De... | CIViC Evidence | Detail |
| NM_004958.4(MTOR):c.6101C>T (p.Ala2034Val) AND not provided | 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
- rs1642913562 dbSNP
- Genome
- hg38
- Position
- chr1:11,127,739-11,127,739
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- A2034V
- Transcript 1 (CIViC Variant)
- ENST00000361445.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/610
Genome browser