chr4:54274869:T>C Detail (hg38) (PDGFRA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:55,141,036-55,141,036 View the variant detail on this assembly version. |
| hg38 | chr4:54,274,869-54,274,869 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006206.4:c.1682T>C | NP_006197.1:p.Val561Ala |
| Ensemble | ENST00000257290.10:c.1682T>C | ENST00000257290.10:p.Val561Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
2016-03-10 | no assertion provided | gastrointestinal stromal tumor |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| gastrointestinal stromal tumor | Imatinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 12949711 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 293T cells stably transduced with PDGFRA V561A showed constitutive tyrosine phosphorylation in the a... | CIViC Evidence | Detail |
| NM_006206.6(PDGFRA):c.1682T>C (p.Val561Ala) AND Gastrointestinal stromal tumor | ClinVar | 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
- -
- dbSNP
- rs121908586 dbSNP
- Genome
- hg38
- Position
- chr4:54,274,869-54,274,869
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- V561A
- Transcript 1 (CIViC Variant)
- ENST00000257290.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/247
Genome browser