BHLHE22 basic helix-loop-helix family member e22
Information
- Symbol
- BHLHE22
- Type
- protein-coding
- Description
- basic helix-loop-helix family member e22
- Entrez Gene ID
- 27319
- Genome
- hg19
- Position
- chr8:65,492,922-65,496,184
- Genome
- hg38
- Position
- chr8:64,580,365-64,583,627
- MIM
- 613483 OMIM
- HGNC
- HGNC:11963 HGNC
- Ensembl
- ENSG00000180828 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 62 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
66 |
 |
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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| Category | : |
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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 | BHLHB5 |
| SYNONYM | Beta3 |
| SYNONYM | Beta3a |
| SYNONYM | CAGL85 |
| SYNONYM | TNRC20 |
| MIM | 613483 OMIM |
| HGNC | HGNC:11963 HGNC |
| Ensembl | ENSG00000180828 Ensembl |
| AllianceGenome | HGNC:11963 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000321870.3 | hg38 | chr8 | 64,580,365 | 64,583,627 | 3,263 |
| ENST00000321870.3 | hg19 | chr8 | 65,492,922 | 65,496,184 | 3,263 |
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