chr17:29421945:> Detail (hg19) (NF1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:29,421,945-29,704,695 |
| hg38 | chr17:31,094,927-31,377,677 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| skin melanoma | Vemurafenib | D |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 23171796 | Detail |
| skin melanoma | Sirolimus,MEK Inhibitor PD0325901 | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 23171796 | Detail |
| skin melanoma | Vemurafenib | C |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 23288408 | Detail |
| skin melanoma | VTX-11e,AZ628 | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 23288408 | Detail |
| plexiform neurofibroma | Selumetinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Rare Germline | 3 | 28029918 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Preclinical study of mouse melanoma in-vitro and in-vivo. In-vitro treament of Braf-mutant melanomas... | CIViC Evidence | Detail |
| Preclinical study of mouse melanoma both in-vitro and in-vivo. Braf/Nf1-mutant melanomas were less s... | CIViC Evidence | Detail |
| NF1 was identified in an unbiased RNAi screen as mediator of resistance to BRAF inhibition in BRAF m... | CIViC Evidence | Detail |
| NF1 was identified in an unbiased RNAi screen as mediator of resistance to BRAF inhibition in BRAF m... | CIViC Evidence | Detail |
| Treatment with selumetinib (NCT01362803) resulted in confirmed partial, long term responses in 17 of... | 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
- chr17:29,421,945-29,704,695
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Transcript 1 (CIViC Variant)
- ENST00000358273.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/587
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