DEFA1B defensin alpha 1B
Information
- Symbol
- DEFA1B
- Type
- protein-coding
- Description
- defensin alpha 1B
- Entrez Gene ID
- 728358
- Genome
- hg19
- Position
- chr8:6,854,288-6,856,720
- Genome
- hg38
- Position
- chr8:6,996,766-6,999,198
- HGNC
- HGNC:33596 HGNC
- Ensembl
- ENSG00000240247 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| not provided | 1 | 0 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
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0 |
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0 |
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0 |
 |
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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | HNP-1 |
| SYNONYM | HP-1 |
| SYNONYM | HP1 |
| HGNC | HGNC:33596 HGNC |
| Ensembl | ENSG00000240247 Ensembl |
| AllianceGenome | HGNC:33596 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000382689.8 | hg38 | chr8 | 6,996,766 | 6,999,198 | 2,433 |
| ENST00000382689.8 | hg19 | chr8 | 6,854,288 | 6,856,720 | 2,433 |
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