ACTMAP actin maturation protease
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 12 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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12 |
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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 |
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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 | C19orf54 |
MIM | 620093 OMIM |
HGNC | HGNC:24758 HGNC |
Ensembl | ENSG00000188493 Ensembl |
AllianceGenome | HGNC:24758 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000470681.5 | hg38 | chr19 | 40,740,856 | 40,750,492 | 9,637 |
ENST00000378313.7 | hg38 | chr19 | 40,740,861 | 40,750,477 | 9,617 |
ENST00000598485.6 | hg38 | chr19 | 40,740,862 | 40,750,302 | 9,441 |
ENST00000470681.5 | hg19 | chr19 | 41,246,761 | 41,256,397 | 9,637 |
ENST00000378313.7 | hg19 | chr19 | 41,246,766 | 41,256,382 | 9,617 |
ENST00000598485.6 | hg19 | chr19 | 41,246,767 | 41,256,207 | 9,441 |
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