NF2 K159FS*16 Detail (hg19) (NF2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:30,050,673-30,050,675 |
| hg38 | chr22:29,654,684-29,654,686 View the variant detail on this assembly version. |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| breast cancer | Temsirolimus | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 25878190 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 23 patients were treated with temsirolimus containing regimens. 1 patient with a complete response >... | 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
- NF2
- Genome
- hg19
- Position
- chr22:30,050,673-30,050,675
- Variant Type
- cnv
- Variant (CIViC) (CIViC Variant)
- K159FS*16
- Transcript 1 (CIViC Variant)
- ENST00000338641.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/279
Genome browser