PRKAG1 protein kinase AMP-activated non-catalytic subunit gamma 1
Information
- Symbol
- PRKAG1
- Type
- protein-coding
- Description
- protein kinase AMP-activated non-catalytic subunit gamma 1
- Entrez Gene ID
- 5571
- Genome
- hg19
- Position
- chr12:49,396,061-49,412,562
- Genome
- hg38
- Position
- chr12:49,002,278-49,018,779
- MIM
- 602742 OMIM
- HGNC
- HGNC:9385 HGNC
- Ensembl
- ENSG00000181929 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| not provided | 2 | 0 |
| Uncertain significance | 0 | 26 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
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26 |
 |
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
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
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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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| 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 | AMPKG |
| MIM | 602742 OMIM |
| HGNC | HGNC:9385 HGNC |
| Ensembl | ENSG00000181929 Ensembl |
| AllianceGenome | HGNC:9385 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000548065.7 | hg38 | chr12 | 49,002,274 | 49,018,776 | 16,503 |
| ENST00000316299.9 | hg38 | chr12 | 49,002,278 | 49,018,779 | 16,502 |
| ENST00000552212.5 | hg38 | chr12 | 49,002,614 | 49,018,748 | 16,135 |
| ENST00000547306.5 | hg38 | chr12 | 49,002,278 | 49,018,764 | 16,487 |
| ENST00000548065.7 | hg19 | chr12 | 49,396,057 | 49,412,559 | 16,503 |
| ENST00000547306.5 | hg19 | chr12 | 49,396,061 | 49,412,547 | 16,487 |
| ENST00000316299.9 | hg19 | chr12 | 49,396,061 | 49,412,562 | 16,502 |
| ENST00000552212.5 | hg19 | chr12 | 49,396,397 | 49,412,531 | 16,135 |
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