ACBD4 acyl-CoA binding domain containing 4
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 6 |
Uncertain significance | 0 | 42 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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48 |
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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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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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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 | HMFT0700 |
MIM | 619968 OMIM |
HGNC | HGNC:23337 HGNC |
Ensembl | ENSG00000181513 Ensembl |
AllianceGenome | HGNC:23337 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000592162.5 | hg38 | chr17 | 45,135,690 | 45,144,176 | 8,487 |
ENST00000619916.4 | hg38 | chr17 | 45,132,600 | 45,142,610 | 10,011 |
ENST00000431281.5 | hg38 | chr17 | 45,132,600 | 45,144,172 | 11,573 |
ENST00000321854.13 | hg38 | chr17 | 45,135,687 | 45,144,176 | 8,490 |
ENST00000376955.8 | hg38 | chr17 | 45,135,694 | 45,142,959 | 7,266 |
ENST00000398322.7 | hg38 | chr17 | 45,135,687 | 45,144,181 | 8,495 |
ENST00000586346.5 | hg38 | chr17 | 45,135,647 | 45,143,850 | 8,204 |
ENST00000591859.5 | hg38 | chr17 | 45,132,631 | 45,144,176 | 11,546 |
ENST00000619916.4 | hg19 | chr17 | 43,209,967 | 43,219,977 | 10,011 |
ENST00000431281.5 | hg19 | chr17 | 43,209,967 | 43,221,539 | 11,573 |
ENST00000591859.5 | hg19 | chr17 | 43,209,998 | 43,221,543 | 11,546 |
ENST00000586346.5 | hg19 | chr17 | 43,213,014 | 43,221,217 | 8,204 |
ENST00000321854.13 | hg19 | chr17 | 43,213,054 | 43,221,543 | 8,490 |
ENST00000398322.7 | hg19 | chr17 | 43,213,054 | 43,221,548 | 8,495 |
ENST00000592162.5 | hg19 | chr17 | 43,213,057 | 43,221,543 | 8,487 |
ENST00000376955.8 | hg19 | chr17 | 43,213,061 | 43,220,326 | 7,266 |
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