ZBTB18 zinc finger and BTB domain containing 18
Information
- Symbol
- ZBTB18
- Type
- protein-coding
- Description
- zinc finger and BTB domain containing 18
- Entrez Gene ID
- 10472
- Genome
- hg19
- Position
- chr1:244,214,585-244,220,778
- Genome
- hg38
- Position
- chr1:244,051,283-244,057,476
- MIM
- 608433 OMIM
- HGNC
- HGNC:13030 HGNC
- Ensembl
- ENSG00000179456 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 54 |
| Likely pathogenic | 0 | 72 |
| Benign | 0 | 32 |
| Likely benign | 0 | 130 |
| Conflicting classifications of pathogenicity | 0 | 18 |
| not provided | 0 | 8 |
| Uncertain significance | 0 | 158 |
Ranking
| ClinVar | |
|---|---|
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0 |
![]() |
0 |
![]() |
40 |
![]() |
380 |
![]() |
18 |
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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| 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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| 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
|
| Category | : |
|
| 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 | C1DELq42q44 |
| SYNONYM | C1DELq43q44 |
| SYNONYM | C2H2-171 |
| SYNONYM | DEL1Q42Q44 |
| SYNONYM | DEL1Q43Q44 |
| SYNONYM | MRD22 |
| SYNONYM | RP58 |
| SYNONYM | TAZ-1 |
| SYNONYM | ZNF238 |
| MIM | 608433 OMIM |
| HGNC | HGNC:13030 HGNC |
| Ensembl | ENSG00000179456 Ensembl |
| AllianceGenome | HGNC:13030 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000358704.4 | hg38 | chr1 | 244,051,283 | 244,057,476 | 6,194 |
| ENST00000622512.1 | hg38 | chr1 | 244,048,939 | 244,057,472 | 8,534 |
| ENST00000696617.1 | hg38 | chr1 | 244,051,283 | 244,057,476 | 6,194 |
| ENST00000696616.1 | hg38 | chr1 | 244,049,799 | 244,057,472 | 7,674 |
| ENST00000696615.1 | hg38 | chr1 | 244,048,547 | 244,055,501 | 6,955 |
| ENST00000696618.1 | hg38 | chr1 | 244,052,236 | 244,057,476 | 5,241 |
| ENST00000696615.1 | hg19 | chr1 | 244,211,849 | 244,218,803 | 6,955 |
| ENST00000622512.1 | hg19 | chr1 | 244,212,241 | 244,220,774 | 8,534 |
| ENST00000696616.1 | hg19 | chr1 | 244,213,101 | 244,220,774 | 7,674 |
| ENST00000358704.4 | hg19 | chr1 | 244,214,585 | 244,220,778 | 6,194 |
| ENST00000696617.1 | hg19 | chr1 | 244,214,585 | 244,220,778 | 6,194 |
| ENST00000696618.1 | hg19 | chr1 | 244,215,538 | 244,220,778 | 5,241 |
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