PPARGC1A PPARG coactivator 1 alpha
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 28 |
| Likely benign | 0 | 20 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 54 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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12 |
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88 |
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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
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| Target data | : |
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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 | LEM6 |
| SYNONYM | PGC-1(alpha) |
| SYNONYM | PGC-1alpha |
| SYNONYM | PGC-1v |
| SYNONYM | PGC1 |
| SYNONYM | PGC1A |
| SYNONYM | PPARGC1 |
| MIM | 604517 OMIM |
| HGNC | HGNC:9237 HGNC |
| Ensembl | ENSG00000109819 Ensembl |
| AllianceGenome | HGNC:9237 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000613098.4 | hg38 | chr4 | 23,795,339 | 23,881,292 | 85,954 |
| ENST00000507380.1 | hg38 | chr4 | 23,882,679 | 23,890,035 | 7,357 |
| ENST00000264867.7 | hg38 | chr4 | 23,792,021 | 23,890,047 | 98,027 |
| ENST00000617484.4 | hg38 | chr4 | 23,820,610 | 23,890,077 | 69,468 |
| ENST00000612355.1 | hg38 | chr4 | 23,824,372 | 23,890,077 | 65,706 |
| ENST00000264867.7 | hg19 | chr4 | 23,793,644 | 23,891,670 | 98,027 |
| ENST00000507380.1 | hg19 | chr4 | 23,884,302 | 23,891,658 | 7,357 |
| ENST00000612355.1 | hg19 | chr4 | 23,825,995 | 23,891,700 | 65,706 |
| ENST00000617484.4 | hg19 | chr4 | 23,822,233 | 23,891,700 | 69,468 |
| ENST00000613098.4 | hg19 | chr4 | 23,796,962 | 23,882,915 | 85,954 |
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