THOC2 THO complex subunit 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 20 | 12 |
Likely pathogenic | 0 | 24 |
Benign | 0 | 38 |
Likely benign | 0 | 48 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 6 | 0 |
Uncertain significance | 0 | 228 |
Ranking
ClinVar | |
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0 |
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0 |
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38 |
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256 |
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44 |
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
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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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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 | CXorf3 |
SYNONYM | MRX12 |
SYNONYM | MRX35 |
SYNONYM | THO2 |
SYNONYM | XLID12 |
SYNONYM | dJ506G2.1 |
SYNONYM | hTREX120 |
MIM | 300395 OMIM |
HGNC | HGNC:19073 HGNC |
Ensembl | ENSG00000125676 Ensembl |
AllianceGenome | HGNC:19073 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000245838.13 | hg38 | chrX | 123,600,569 | 123,733,052 | 132,484 |
ENST00000618150.4 | hg38 | chrX | 123,601,880 | 123,623,328 | 21,449 |
ENST00000491737.5 | hg38 | chrX | 123,610,921 | 123,697,687 | 86,767 |
ENST00000355725.8 | hg38 | chrX | 123,610,198 | 123,733,056 | 122,859 |
ENST00000245838.13 | hg19 | chrX | 122,734,420 | 122,866,902 | 132,483 |
ENST00000355725.8 | hg19 | chrX | 122,744,049 | 122,866,906 | 122,858 |
ENST00000618150.4 | hg19 | chrX | 122,735,731 | 122,757,179 | 21,449 |
ENST00000491737.5 | hg19 | chrX | 122,744,772 | 122,831,537 | 86,766 |
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