THAP2 THAP domain containing 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 14 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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14 |
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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
[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 |
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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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MIM | 612531 OMIM |
HGNC | HGNC:20854 HGNC |
Ensembl | ENSG00000173451 Ensembl |
AllianceGenome | HGNC:20854 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000308086.3 | hg38 | chr12 | 71,664,301 | 71,680,644 | 16,344 |
ENST00000547843.1 | hg38 | chr12 | 71,664,481 | 71,665,440 | 960 |
ENST00000308086.3 | hg19 | chr12 | 72,058,081 | 72,074,424 | 16,344 |
ENST00000547843.1 | hg19 | chr12 | 72,058,261 | 72,059,220 | 960 |
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