chr1:11127037:G>T Detail (hg38) (MTOR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:11,187,094-11,187,094 View the variant detail on this assembly version. |
| hg38 | chr1:11,127,037-11,127,037 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004958.3:c.6324C>A | NP_004949.1:p.Phe2108Leu |
| Ensemble | ENST00000361445.9:c.6324C>A | ENST00000361445.9:p.Phe2108Leu |
| ENST00000703140.1:c.6111C>A | ENST00000703140.1:p.Phe2037Leu |
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 |
|---|---|---|---|---|---|---|---|---|---|
| thyroid gland carcinoma | Everolimus | C |
Predictive
|
Supports
|
Resistance | Somatic | 5 | 25295501 | Detail |
| breast cancer | Sirolimus | D |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 27279227 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The pretreatment tumor contained a somatic nonsense mutation (Q1178*) in the tumor-suppressor gene T... | CIViC Evidence | Detail |
| MCF-7 breast cancer cell line was exposed to mTOR inhibitors AZD8055 or rapamycin until resistance d... | 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
- hg38
- Position
- chr1:11,127,037-11,127,037
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- F2108L
- Transcript 1 (CIViC Variant)
- ENST00000361445.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/470
Genome browser