MOGS mannosyl-oligosaccharide glucosidase
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 40 |
Likely pathogenic | 0 | 20 |
Benign | 0 | 38 |
Likely benign | 0 | 368 |
Conflicting classifications of pathogenicity | 0 | 18 |
not provided | 0 | 2 |
Uncertain significance | 0 | 554 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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146 |
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846 |
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6 |
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 | |||||
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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 | CDG2B |
SYNONYM | CWH41 |
SYNONYM | DER7 |
SYNONYM | GCS1 |
MIM | 601336 OMIM |
HGNC | HGNC:24862 HGNC |
Ensembl | ENSG00000115275 Ensembl |
AllianceGenome | HGNC:24862 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000648810.1 | hg38 | chr2 | 74,461,120 | 74,465,404 | 4,285 |
ENST00000452063.7 | hg38 | chr2 | 74,461,179 | 74,465,396 | 4,218 |
ENST00000649601.1 | hg38 | chr2 | 74,461,102 | 74,465,362 | 4,261 |
ENST00000448666.7 | hg38 | chr2 | 74,461,057 | 74,465,382 | 4,326 |
ENST00000690565.1 | hg38 | chr2 | 74,461,126 | 74,465,403 | 4,278 |
ENST00000691308.1 | hg38 | chr2 | 74,461,275 | 74,465,403 | 4,129 |
ENST00000462443.2 | hg38 | chr2 | 74,461,102 | 74,465,410 | 4,309 |
ENST00000649075.1 | hg38 | chr2 | 74,461,106 | 74,465,400 | 4,295 |
ENST00000409065.5 | hg38 | chr2 | 74,461,069 | 74,465,385 | 4,317 |
ENST00000409065.5 | hg19 | chr2 | 74,688,196 | 74,692,512 | 4,317 |
ENST00000448666.7 | hg19 | chr2 | 74,688,184 | 74,692,509 | 4,326 |
ENST00000462443.2 | hg19 | chr2 | 74,688,229 | 74,692,537 | 4,309 |
ENST00000452063.7 | hg19 | chr2 | 74,688,306 | 74,692,523 | 4,218 |
ENST00000648810.1 | hg19 | chr2 | 74,688,247 | 74,692,531 | 4,285 |
ENST00000649075.1 | hg19 | chr2 | 74,688,233 | 74,692,527 | 4,295 |
ENST00000649601.1 | hg19 | chr2 | 74,688,229 | 74,692,489 | 4,261 |
ENST00000690565.1 | hg19 | chr2 | 74,688,253 | 74,692,530 | 4,278 |
ENST00000691308.1 | hg19 | chr2 | 74,688,402 | 74,692,530 | 4,129 |
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