GPI glucose-6-phosphate isomerase
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 10 | 36 |
Likely pathogenic | 0 | 18 |
Benign | 8 | 38 |
Likely benign | 0 | 70 |
Conflicting classifications of pathogenicity | 0 | 14 |
Uncertain significance | 0 | 136 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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60 |
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218 |
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10 |
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 |
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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 | |||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | AMF |
SYNONYM | GNPI |
SYNONYM | NLK |
SYNONYM | PGI |
SYNONYM | PHI |
SYNONYM | SA-36 |
SYNONYM | SA36 |
MIM | 172400 OMIM |
HGNC | HGNC:4458 HGNC |
Ensembl | ENSG00000105220 Ensembl |
AllianceGenome | HGNC:4458 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000588991.7 | hg38 | chr19 | 34,364,793 | 34,400,245 | 35,453 |
ENST00000415930.8 | hg38 | chr19 | 34,364,740 | 34,402,413 | 37,674 |
ENST00000356487.11 | hg38 | chr19 | 34,365,196 | 34,402,413 | 37,218 |
ENST00000356487.11 | hg19 | chr19 | 34,856,101 | 34,893,318 | 37,218 |
ENST00000415930.8 | hg19 | chr19 | 34,855,645 | 34,893,318 | 37,674 |
ENST00000588991.7 | hg19 | chr19 | 34,855,698 | 34,891,150 | 35,453 |
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