CSTF2 cleavage stimulation factor subunit 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 4 |
Likely benign | 0 | 4 |
not provided | 6 | 0 |
Uncertain significance | 0 | 24 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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32 |
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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
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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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 | CSTF64 |
SYNONYM | CstF-64 |
SYNONYM | XLID113 |
MIM | 300907 OMIM |
HGNC | HGNC:2484 HGNC |
Ensembl | ENSG00000101811 Ensembl |
AllianceGenome | HGNC:2484 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000415585.7 | hg38 | chrX | 100,820,391 | 100,841,520 | 21,130 |
ENST00000372972.7 | hg38 | chrX | 100,820,391 | 100,841,520 | 21,130 |
ENST00000372972.7 | hg19 | chrX | 100,075,380 | 100,096,509 | 21,130 |
ENST00000415585.7 | hg19 | chrX | 100,075,380 | 100,096,509 | 21,130 |
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