PGAM4 phosphoglycerate mutase family member 4
Information
- Symbol
- PGAM4
- Type
- protein-coding
- Description
- phosphoglycerate mutase family member 4
- Entrez Gene ID
- 441531
- Genome
- hg19
- Position
- chrX:77,223,446-77,225,135
- Genome
- hg38
- Position
- chrX:77,967,949-77,969,638
- MIM
- 300567 OMIM
- HGNC
- HGNC:21731 HGNC
- Ensembl
- ENSG00000226784 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 20 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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24 |
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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
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 | PGAM-B |
| SYNONYM | PGAM1 |
| SYNONYM | PGAM3 |
| SYNONYM | dJ1000K24.1 |
| MIM | 300567 OMIM |
| HGNC | HGNC:21731 HGNC |
| Ensembl | ENSG00000226784 Ensembl |
| AllianceGenome | HGNC:21731 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000458128.3 | hg38 | chrX | 77,967,949 | 77,969,638 | 1,690 |
| ENST00000458128.3 | hg19 | chrX | 77,223,446 | 77,225,135 | 1,690 |
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