chr10:121478332:> Detail (hg38) (FGFR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:123,237,846-123,357,972 |
| hg38 | chr10:121,478,332-121,598,458 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| cholangiocarcinoma | Infigratinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 27870574 | Detail |
| cancer | Erdafitinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 26324363 | Detail |
| cholangiocarcinoma | Infigratinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 29182496 | Detail |
| cholangiocarcinoma | Infigratinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 29182496 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Phase 1 study of FGFR-inhibitor BGJ398 in advanced cancer with FGFR-aberrations. Among three patient... | CIViC Evidence | Detail |
| Phase 1 study of pan-FGFR inhibitor JNJ-42756493 in patients with solid tumors. No responses were se... | CIViC Evidence | Detail |
| This Phase II trial of BGJ398 for FGFR2 aberant cholangiocarcinoma included 48 patients with FGFR2 f... | CIViC Evidence | Detail |
| Eight patients with cholangiocarcinoma haboring FGFR2 mutations received BGJ398. No response was obs... | 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
- hg38
- Position
- chr10:121,478,332-121,598,458
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- FUSION
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/828
- Variant (CIViC) (CIViC Variant)
- FGFR2 fusions
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2202
- Variant (CIViC) (CIViC Variant)
- FGFR2 mutations
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2206
- Variant (CIViC) (CIViC Variant)
- N549H
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2780
- Variant (CIViC) (CIViC Variant)
- S320C
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2946
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