chr8:31496738:> Detail (hg19) (NRG1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr8:31,496,738-32,631,564 |
hg38 | chr8:31,639,222-32,774,046 |
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 |
---|---|---|---|---|---|---|---|---|---|
pancreatic adenocarcinoma | Afatinib | C |
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Sensitivity/Response | Somatic | 4 | 29802158 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In patients with KRAS wild-type (KRASwt) tumors druggable gene fusions have been identified. These a... | CIViC Evidence | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- Genome
- hg19
- Position
- chr8:31,496,738-32,631,564
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- NRG1 FUSIONS
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2286
- Summary (CIViC Variant)
- NRG1 fusions have been described in cases of invasive mucinous adenocarcinoma of the lung, pancreatic ductal adenocarcinoma, cholangiocarcinoma and lung adenocarcinoma. In many cases these tumors were negative for the more common known driver genes of these diseases (e.g., KRAS wild-type pancreatic ductal adenocarcinoma). These events have been proposed as an attractive therapeutic target and some promising results have been observed with pan-HER inhibitors such as afatinib.
- Variant (CIViC) (CIViC Variant)
- FUSION
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2762
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