PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1
Information
- Symbol
- PRKAB1
- Type
- protein-coding
- Description
- protein kinase AMP-activated non-catalytic subunit beta 1
- Entrez Gene ID
- 5564
- Genome
- hg19
- Position
- chr12:120,105,669-120,119,429
- Genome
- hg38
- Position
- chr12:119,667,864-119,681,624
- MIM
- 602740 OMIM
- HGNC
- HGNC:9378 HGNC
- Ensembl
- ENSG00000111725 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Uncertain significance | 0 | 20 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
22 |
 |
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 | |||||||||||
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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 | AMPK |
| SYNONYM | HAMPKb |
| MIM | 602740 OMIM |
| HGNC | HGNC:9378 HGNC |
| Ensembl | ENSG00000111725 Ensembl |
| AllianceGenome | HGNC:9378 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000630317.1 | hg38 | chr12 | 119,668,164 | 119,671,512 | 3,349 |
| ENST00000229328.10 | hg38 | chr12 | 119,668,133 | 119,681,619 | 13,487 |
| ENST00000540121.5 | hg38 | chr12 | 119,669,424 | 119,680,841 | 11,418 |
| ENST00000541640.5 | hg38 | chr12 | 119,667,864 | 119,681,624 | 13,761 |
| ENST00000541640.5 | hg19 | chr12 | 120,105,669 | 120,119,429 | 13,761 |
| ENST00000229328.10 | hg19 | chr12 | 120,105,938 | 120,119,424 | 13,487 |
| ENST00000630317.1 | hg19 | chr12 | 120,105,969 | 120,109,317 | 3,349 |
| ENST00000540121.5 | hg19 | chr12 | 120,107,229 | 120,118,646 | 11,418 |
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