BICDL1 BICD family like cargo adaptor 1
Information
Clinical Significance
MGeND | ClinVar | |
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not provided | 1 | 0 |
Uncertain significance | 0 | 4 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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4 |
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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
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 | BICDR-1 |
SYNONYM | BICDR1 |
SYNONYM | CCDC64 |
SYNONYM | CCDC64A |
SYNONYM | H_267D11.1 |
MIM | 617002 OMIM |
HGNC | HGNC:28095 HGNC |
Ensembl | ENSG00000135127 Ensembl |
AllianceGenome | HGNC:28095 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000548673.6 | hg38 | chr12 | 119,989,236 | 120,094,494 | 105,259 |
ENST00000397558.6 | hg38 | chr12 | 119,989,869 | 120,094,494 | 104,626 |
ENST00000548673.6 | hg19 | chr12 | 120,427,040 | 120,532,298 | 105,259 |
ENST00000397558.6 | hg19 | chr12 | 120,427,673 | 120,532,298 | 104,626 |
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