NF2 LOSS Detail (hg38) (NF2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:29,999,547-30,094,587 View the variant detail on this assembly version. |
| hg38 | chr22:29,603,558-29,698,598 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| thyroid gland carcinoma | Selumetinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 26359368 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NF2 loss promotes oncogenic RAS-signaling via YAP-dependent transactivation of RAS and sensitizes to... | 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
- hg38
- Position
- chr22:29,603,558-29,698,598
- Variant Type
- cnv
- Variant (CIViC) (CIViC Variant)
- LOSS
- Transcript 1 (CIViC Variant)
- ENST00000338641.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/697
Genome browser