THBS3 thrombospondin 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 102 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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100 |
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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
[No Data.]
Locus Zoom
Variants
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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 |
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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 | TSP3 |
MIM | 188062 OMIM |
HGNC | HGNC:11787 HGNC |
Ensembl | ENSG00000169231 Ensembl |
AllianceGenome | HGNC:11787 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000368378.7 | hg38 | chr1 | 155,195,588 | 155,207,897 | 12,310 |
ENST00000541576.5 | hg38 | chr1 | 155,195,590 | 155,207,981 | 12,392 |
ENST00000541990.5 | hg38 | chr1 | 155,195,791 | 155,207,899 | 12,109 |
ENST00000457183.6 | hg38 | chr1 | 155,195,666 | 155,207,917 | 12,252 |
ENST00000368378.7 | hg19 | chr1 | 155,165,379 | 155,177,688 | 12,310 |
ENST00000541576.5 | hg19 | chr1 | 155,165,381 | 155,177,772 | 12,392 |
ENST00000457183.6 | hg19 | chr1 | 155,165,457 | 155,177,708 | 12,252 |
ENST00000541990.5 | hg19 | chr1 | 155,165,582 | 155,177,690 | 12,109 |
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