CCDC88B coiled-coil domain containing 88B
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 10 |
Uncertain significance | 0 | 228 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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240 |
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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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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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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 | BRLZ |
SYNONYM | CCDC88 |
SYNONYM | HKRP3 |
SYNONYM | gipie |
MIM | 611205 OMIM |
HGNC | HGNC:26757 HGNC |
Ensembl | ENSG00000168071 Ensembl |
AllianceGenome | HGNC:26757 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000359902.2 | hg38 | chr11 | 64,348,831 | 64,357,525 | 8,695 |
ENST00000356786.10 | hg38 | chr11 | 64,340,204 | 64,357,534 | 17,331 |
ENST00000301897.5 | hg38 | chr11 | 64,353,715 | 64,357,533 | 3,819 |
ENST00000356786.10 | hg19 | chr11 | 64,107,676 | 64,125,006 | 17,331 |
ENST00000359902.2 | hg19 | chr11 | 64,116,303 | 64,124,997 | 8,695 |
ENST00000301897.5 | hg19 | chr11 | 64,121,187 | 64,125,005 | 3,819 |
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