DEFB132 defensin beta 132
Information
- Symbol
- DEFB132
- Type
- protein-coding
- Description
- defensin beta 132
- Entrez Gene ID
- 400830
- Genome
- hg19
- Position
- chr20:238,365-241,737
- Genome
- hg38
- Position
- chr20:257,724-261,096
- HGNC
- HGNC:33806 HGNC
- Ensembl
- ENSG00000186458 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 20 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
22 |
 |
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
[No Data.]
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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| 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 | BD-32 |
| SYNONYM | DEFB-32 |
| SYNONYM | DEFB32 |
| SYNONYM | HEL-75 |
| SYNONYM | KFLL827 |
| SYNONYM | UNQ827 |
| HGNC | HGNC:33806 HGNC |
| Ensembl | ENSG00000186458 Ensembl |
| AllianceGenome | HGNC:33806 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000382376.4 | hg38 | chr20 | 257,724 | 261,096 | 3,373 |
| ENST00000382376.4 | hg19 | chr20 | 238,365 | 241,737 | 3,373 |
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