CCDC90B coiled-coil domain containing 90B
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 40 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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40 |
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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 |
Search Word
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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Category | : |
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Search word | : | |
Filtering | : |
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 | MDS011 |
SYNONYM | MDS025 |
MIM | 620753 OMIM |
HGNC | HGNC:28108 HGNC |
Ensembl | ENSG00000137500 Ensembl |
AllianceGenome | HGNC:28108 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000529073.5 | hg38 | chr11 | 83,261,929 | 83,285,978 | 24,050 |
ENST00000455220.6 | hg38 | chr11 | 83,261,317 | 83,286,390 | 25,074 |
ENST00000529689.6 | hg38 | chr11 | 83,259,081 | 83,286,367 | 27,287 |
ENST00000455220.6 | hg19 | chr11 | 82,972,359 | 82,997,433 | 25,075 |
ENST00000529689.6 | hg19 | chr11 | 82,970,123 | 82,997,410 | 27,288 |
ENST00000529073.5 | hg19 | chr11 | 82,972,971 | 82,997,021 | 24,051 |
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