FCSK fucose kinase
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 8 |
Benign | 0 | 76 |
Likely benign | 0 | 310 |
Conflicting classifications of pathogenicity | 0 | 18 |
Uncertain significance | 0 | 532 |
Ranking
ClinVar | |
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0 |
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0 |
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184 |
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724 |
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2 |
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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 |
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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 | 1110046B12Rik |
SYNONYM | CDGF2 |
SYNONYM | FUK |
MIM | 608675 OMIM |
HGNC | HGNC:29500 HGNC |
Ensembl | ENSG00000157353 Ensembl |
AllianceGenome | HGNC:29500 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000288078.11 | hg38 | chr16 | 70,454,595 | 70,480,274 | 25,680 |
ENST00000571514.5 | hg38 | chr16 | 70,454,595 | 70,480,273 | 25,679 |
ENST00000378912.6 | hg38 | chr16 | 70,454,595 | 70,480,274 | 25,680 |
ENST00000571514.5 | hg19 | chr16 | 70,488,498 | 70,514,176 | 25,679 |
ENST00000288078.11 | hg19 | chr16 | 70,488,498 | 70,514,177 | 25,680 |
ENST00000378912.6 | hg19 | chr16 | 70,488,498 | 70,514,177 | 25,680 |
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