PDGFB platelet derived growth factor subunit B
Information
- Symbol
- PDGFB
- Type
- protein-coding
- Description
- platelet derived growth factor subunit B
- Entrez Gene ID
- 5155
- Genome
- hg19
- Position
- chr22:39,619,364-39,640,987
- Genome
- hg38
- Position
- chr22:39,223,359-39,244,982
- MIM
- 190040 OMIM
- HGNC
- HGNC:8800 HGNC
- Ensembl
- ENSG00000100311 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 22 |
| Likely pathogenic | 0 | 14 |
| Benign | 0 | 72 |
| Likely benign | 0 | 74 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| Uncertain significance | 0 | 116 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
32 |
 |
246 |
 |
10 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | IBGC5 |
| SYNONYM | PDGF-2 |
| SYNONYM | PDGF2 |
| SYNONYM | SIS |
| SYNONYM | SSV |
| SYNONYM | c-sis |
| MIM | 190040 OMIM |
| HGNC | HGNC:8800 HGNC |
| Ensembl | ENSG00000100311 Ensembl |
| AllianceGenome | HGNC:8800 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000331163.11 | hg38 | chr22 | 39,223,359 | 39,244,982 | 21,624 |
| ENST00000381551.8 | hg38 | chr22 | 39,224,935 | 39,240,909 | 15,975 |
| ENST00000331163.11 | hg19 | chr22 | 39,619,364 | 39,640,987 | 21,624 |
| ENST00000381551.8 | hg19 | chr22 | 39,620,940 | 39,636,914 | 15,975 |
| Key | Value |
|---|---|
| strand | - |
| UniProt | OG |
| start | 39,619,363 |
| Gene Symbol | PDGFB |
| Entrez GeneId | 5,155 |
| Chr Band | 22q12.3-q13.1 |
| end | 39,641,059 |
| chr | chr22 |
| Name | platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog) |
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