VWA5B2 von Willebrand factor A domain containing 5B2
Information
- Symbol
- VWA5B2
- Type
- protein-coding
- Description
- von Willebrand factor A domain containing 5B2
- Entrez Gene ID
- 90113
- Genome
- hg19
- Position
- chr3:183,947,373-183,960,117
- Genome
- hg38
- Position
- chr3:184,229,585-184,242,329
- HGNC
- HGNC:25144 HGNC
- Ensembl
- ENSG00000145198 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 1 | 0 |
| Likely benign | 0 | 10 |
| Uncertain significance | 0 | 148 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
158 |
 |
0 |
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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| 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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| 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 | |||||||||||||||
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000691901.1 | hg38 | chr3 | 184,229,585 | 184,242,329 | 12,745 |
| ENST00000426955.6 | hg38 | chr3 | 184,230,429 | 184,242,329 | 11,901 |
| ENST00000273794.5 | hg38 | chr3 | 184,233,416 | 184,242,283 | 8,868 |
| ENST00000691901.1 | hg19 | chr3 | 183,947,373 | 183,960,117 | 12,745 |
| ENST00000426955.6 | hg19 | chr3 | 183,948,217 | 183,960,117 | 11,901 |
| ENST00000273794.5 | hg19 | chr3 | 183,951,204 | 183,960,071 | 8,868 |
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