chr22:29999547:> Detail (hg19) (NF2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:29,999,547-30,094,587 |
| hg38 | chr22:29,603,558-29,698,598 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| acoustic neuroma | Everolimus | B |
Predictive
|
Supports
|
N/A | Rare Germline | 3 | 25567352 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Ten patients with Neurofibromatosis 2 were enrolled for treatment with Everolimus. At 12 months, no... | 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
- chr22:29,999,547-30,094,587
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Transcript 1 (CIViC Variant)
- ENST00000338641.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/659
Genome browser