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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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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 | |||
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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 |
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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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