DEFB129 defensin beta 129
Information
- Symbol
- DEFB129
- Type
- protein-coding
- Description
- defensin beta 129
- Entrez Gene ID
- 140881
- Genome
- hg19
- Position
- chr20:207,899-210,527
- Genome
- hg38
- Position
- chr20:227,258-229,886
- HGNC
- HGNC:16218 HGNC
- Ensembl
- ENSG00000125903 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 24 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
24 |
 |
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
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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
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MGeND data only
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| 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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| 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 | C20orf87 |
| SYNONYM | DEFB-29 |
| SYNONYM | DEFB29 |
| SYNONYM | bA530N10.3 |
| SYNONYM | hBD-29 |
| HGNC | HGNC:16218 HGNC |
| Ensembl | ENSG00000125903 Ensembl |
| AllianceGenome | HGNC:16218 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000246105.4 | hg38 | chr20 | 227,258 | 229,886 | 2,629 |
| ENST00000246105.4 | hg19 | chr20 | 207,899 | 210,527 | 2,629 |
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