chr4:55152101:CATGATTCGAAC> Detail (hg19) (PDGFRA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:55,152,101-55,152,112 |
| hg38 | chr4:54,285,934-54,285,945 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006206.4:c.2533_2544delCATGATTCGAAC | NP_006197.1:p.His845_Asn848del |
| Ensemble | ENST00000257290.10:c.2533_2544delCATGATTCGAAC | ENST00000257290.10:p.His845_Asn848del |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2003-01-31 | no assertion criteria provided | gastrointestinal stromal tumor |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.616 | Gastrointestinal Stromal Tumors | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006206.6(PDGFRA):c.2533_2544del (p.His845_Asn848del) AND Gastrointestinal stromal tumor | ClinVar | Detail |
| NA | DisGeNET | 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
- rs587776793 dbSNP
- Genome
- hg19
- Position
- chr4:55,152,101-55,152,112
- Variant Type
- snv
- Reference Allele
- CATGATTCGAAC
- Alternative Allele
- -
Genome browser