BEAN1 brain expressed associated with NEDD4 1
Information
- Symbol
- BEAN1
- Type
- protein-coding
- Description
- brain expressed associated with NEDD4 1
- Entrez Gene ID
- 146227
- Genome
- hg19
- Position
- chr16:66,461,198-66,516,736
- Genome
- hg38
- Position
- chr16:66,427,295-66,482,833
- MIM
- 612051 OMIM
- HGNC
- HGNC:24160 HGNC
- Ensembl
- ENSG00000166546 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 8 |
| Likely benign | 0 | 12 |
| Uncertain significance | 0 | 44 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
62 |
 |
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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| 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 | BEAN |
| SYNONYM | SCA31 |
| MIM | 612051 OMIM |
| HGNC | HGNC:24160 HGNC |
| Ensembl | ENSG00000166546 Ensembl |
| AllianceGenome | HGNC:24160 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000299694.12 | hg38 | chr16 | 66,427,371 | 66,482,269 | 54,899 |
| ENST00000536005.7 | hg38 | chr16 | 66,427,295 | 66,482,833 | 55,539 |
| ENST00000536005.7 | hg19 | chr16 | 66,461,198 | 66,516,736 | 55,539 |
| ENST00000299694.12 | hg19 | chr16 | 66,461,274 | 66,516,172 | 54,899 |
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