PGAM5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase
Information
- Symbol
- PGAM5
- Type
- protein-coding
- Description
- PGAM family member 5, mitochondrial serine/threonine protein phosphatase
- Entrez Gene ID
- 192111
- Genome
- hg19
- Position
- chr12:133,287,428-133,299,320
- Genome
- hg38
- Position
- chr12:132,710,842-132,722,734
- MIM
- 614939 OMIM
- HGNC
- HGNC:28763 HGNC
- Ensembl
- ENSG00000247077 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 54 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 46 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
100 |
 |
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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| Search word | : | |
| 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 | BXLBV68 |
| MIM | 614939 OMIM |
| HGNC | HGNC:28763 HGNC |
| Ensembl | ENSG00000247077 Ensembl |
| AllianceGenome | HGNC:28763 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000454808.2 | hg38 | chr12 | 132,714,753 | 132,721,128 | 6,376 |
| ENST00000317555.6 | hg38 | chr12 | 132,710,819 | 132,719,166 | 8,348 |
| ENST00000543955.5 | hg38 | chr12 | 132,711,082 | 132,721,314 | 10,233 |
| ENST00000704860.1 | hg38 | chr12 | 132,710,839 | 132,721,283 | 10,445 |
| ENST00000498926.7 | hg38 | chr12 | 132,710,842 | 132,722,734 | 11,893 |
| ENST00000317555.6 | hg19 | chr12 | 133,287,405 | 133,295,752 | 8,348 |
| ENST00000704860.1 | hg19 | chr12 | 133,287,425 | 133,297,869 | 10,445 |
| ENST00000498926.7 | hg19 | chr12 | 133,287,428 | 133,299,320 | 11,893 |
| ENST00000543955.5 | hg19 | chr12 | 133,287,668 | 133,297,900 | 10,233 |
| ENST00000454808.2 | hg19 | chr12 | 133,291,339 | 133,297,714 | 6,376 |
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