GYG2 glycogenin 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 1 | 0 |
Benign | 0 | 102 |
Likely benign | 0 | 126 |
Conflicting classifications of pathogenicity | 0 | 22 |
not provided | 8 | 0 |
Uncertain significance | 0 | 82 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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40 |
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262 |
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4 |
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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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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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 | GN-2 |
SYNONYM | GN2 |
MIM | 300198 OMIM |
HGNC | HGNC:4700 HGNC |
Ensembl | ENSG00000056998 Ensembl |
AllianceGenome | HGNC:4700 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000398806.8 | hg38 | chrX | 2,828,930 | 2,882,818 | 53,889 |
ENST00000381163.7 | hg38 | chrX | 2,828,822 | 2,882,818 | 53,997 |
ENST00000353656.10 | hg38 | chrX | 2,830,189 | 2,881,213 | 51,025 |
ENST00000381163.7 | hg19 | chrX | 2,746,863 | 2,800,859 | 53,997 |
ENST00000398806.8 | hg19 | chrX | 2,746,971 | 2,800,859 | 53,889 |
ENST00000353656.10 | hg19 | chrX | 2,748,230 | 2,799,254 | 51,025 |
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